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Gencode Genes

CCDC30 (ENST00000657597.2) at chr1:42463286-42657190 - CCDC30 ENST00000657597.2 coiled-coil domain containing <b>30</b> from HGNC CCDC30 A0A590UK19 ENST00000657597.1 NM_001395517 uc287qkb.1 uc287qkb.2 uc287qkb.1 
RN7SL30P (ENST00000488416.3) at chr9:125512902-125513207 - RN7SL30P ENST00000488416.3 RNA 7SL cytoplasmic <b>30</b> pseudogene from HGNC RN7SL30P ENST00000488416.1 ENST00000488416.2 JD136910 uc064vsd.1 uc064vsd.1 
NAA30 (ENST00000556492.6) at chr14:57390586-57415906 - NAA30 ENST00000556492.6 Homo sapiens N-alpha-acetyltransferase <b>30</b> NatC catalytic subunit NAA30 mRNA from RefSeq NM_001011713 C14orf35 
RNU2-30P (ENST00000516209.1) at chr1:52754322-52754462 - RNU2-30P ENST00000516209.1 RNA U2 small nuclear <b>30</b> pseudogene from HGNC RNU2-30P uc057gpf.1 uc057gpf.1 
PRR30 (ENST00000335524.7) at chr2:27136848-27139410 - PRR30 ENST00000335524.7 Homo sapiens proline rich <b>30</b> PRR30 mRNA from RefSeq NM_178553 C2orf53 CB053_HUMAN ENST00000335524.1 ENST00000335524.2 
RNU1-30P (ENST00000606575.1) at chr3:126160283-126160445 - RNU1-30P ENST00000606575.1 RNA U1 small nuclear <b>30</b> pseudogene from HGNC RNU1-30P uc062nkg.1 uc062nkg.1 
DHX30 (ENST00000445061.6) at chr3:47803138-47850193 - DHX30 ENST00000445061.6 Homo sapiens DExH-box helicase <b>30</b> DHX30 transcript variant 1 mRNA from RefSeq NM_138615 A8K5F1 
FBXO30 (ENST00000237281.5) at chr6:145793502-145814795 - FBXO30 ENST00000237281.5 Homo sapiens F-box protein <b>30</b> FBXO30 transcript variant 1 mRNA from RefSeq NM_032145 ENST00000237281.1 
RNY4P30 (ENST00000410216.1) at chr13:49889634-49889728 - RNY4P30 ENST00000410216.1 RNA Ro-associated Y4 pseudogene <b>30</b> from HGNC RNY4P30 uc058xas.1 uc058xas.1 
TEX30 (ENST00000376032.9) at chr13:102765888-102773786 - TEX30 ENST00000376032.9 Homo sapiens testis expressed <b>30</b> TEX30 transcript variant 1 mRNA from RefSeq NM_138779 C13orf27 
FAM30A (ENST00000701943.1) at chr14:105880036-105922672 - FAM30A ENST00000701943.1 family with sequence similarity <b>30</b> member A from HGNC FAM30A BC016766 uc316gkq.1 uc316gkq.1 
RNU7-30P (ENST00000516835.1) at chr14:91091077-91091138 - RNU7-30P ENST00000516835.1 RNA U7 small nuclear <b>30</b> pseudogene from HGNC RNU7-30P uc059eie.1 uc059eie.1 
RNU6ATAC30P (ENST00000408187.1) at chr14:49684544-49684665 - RNU6ATAC30P ENST00000408187.1 RNA U6atac small nuclear <b>30</b> pseudogene from HGNC RNU6ATAC30P uc059bgc.1 uc059bgc.1 
RNU4-30P (ENST00000410245.1) at chr16:68329387-68329529 - RNU4-30P ENST00000410245.1 RNA U4 small nuclear <b>30</b> pseudogene from HGNC RNU4-30P uc021tke.1 uc021tke.1 
PRSS30P (ENST00000390681.5) at chr16:2839568-2842744 - PRSS30P ENST00000390681.5 Homo sapiens serine protease <b>30</b> pseudogene PRSS30P non-coding RNA from RefSeq NR_026864 ENST00000390681.1 ENST00000390681.2 
RNU6-30P (ENST00000384561.1) at chrX:101634006-101634112 - RNU6-30P ENST00000384561.1 RNA U6 small nuclear <b>30</b> pseudogene from HGNC RNU6-30P uc033eoz.1 uc033eoz.1 
SLC30A2 (ENST00000374276.4) at chr1:26037252-26046118 - SLC30A2 ENST00000374276.4 Homo sapiens solute carrier family <b>30</b> member 2 SLC30A2 transcript variant 1 mRNA from RefSeq 
ADAM30 (ENST00000369400.2) at chr1:119893533-119896515 - ADAM30 ENST00000369400.2 Homo sapiens ADAM metallopeptidase domain <b>30</b> ADAM30 mRNA from RefSeq NM_021794 A8K8W8 ADA30_HUMAN ENST00000369400.1 NM_021794 
SLC30A1 (ENST00000367001.5) at chr1:211571568-211579161 - SLC30A1 ENST00000367001.5 Homo sapiens solute carrier family <b>30</b> member 1 SLC30A1 mRNA from RefSeq NM_021194 ENST00000367001.1 ENST00000367001.2 
SLC30A10 (ENST00000366926.4) at chr1:219910445-219928557 - SLC30A10 ENST00000366926.4 Homo sapiens solute carrier family <b>30</b> member 10 SLC30A10 transcript variant 2 non-coding RNA from 
SLC30A6 (ENST00000282587.9) at chr2:32165864-32224379 - SLC30A6 ENST00000282587.9 Homo sapiens solute carrier family <b>30</b> member 6 SLC30A6 transcript variant 2 mRNA from RefSeq 
SLC30A3 (ENST00000233535.9) at chr2:27253684-27263047 - SLC30A3 ENST00000233535.9 Homo sapiens solute carrier family <b>30</b> member 3 SLC30A3 transcript variant 1 mRNA from RefSeq 
RN7SKP30 (ENST00000411373.1) at chr4:55540502-55540835 - RN7SKP30 ENST00000411373.1 RNA 7SK small nuclear pseudogene <b>30</b> from HGNC RN7SKP30 uc021xom.1 uc021xom.1 
SAP30 (ENST00000296504.4) at chr4:173370954-173377532 - SAP30 ENST00000296504.4 Homo sapiens Sin3A associated protein <b>30</b> SAP30 mRNA from RefSeq NM_003864 D3DP38 ENST00000296504.1 ENST00000296504.2 ENST00000296504.3 
SLC30A9 (ENST00000264451.12) at chr4:41990530-42090461 - SLC30A9 ENST00000264451.12 Homo sapiens solute carrier family <b>30</b> member 9 SLC30A9 mRNA from RefSeq NM_006345 C4orf1 ENST00000264451.1 
SLC30A5 (ENST00000396591.8) at chr5:69094014-69131069 - SLC30A5 ENST00000396591.8 Homo sapiens solute carrier family <b>30</b> member 5 SLC30A5 transcript variant 1 mRNA from RefSeq 
SOX30 (ENST00000265007.11) at chr5:157625679-157652438 - SOX30 ENST00000265007.11 Homo sapiens SRY-box transcription factor <b>30</b> SOX30 transcript variant 1 mRNA from RefSeq NM_178424 ENST00000265007.1 
TRBV30 (ENST00000417977.2) at chr7:142812586-142813399 - TRBV30 ENST00000417977.2 T cell receptor beta variable <b>30</b> gene pseudogene from HGNC TRBV30 A0A0K0K1B3 AB977949 ENST00000417977.1 uc022aob.1 
SLC30A8 (ENST00000456015.7) at chr8:117134995-117176714 - SLC30A8 ENST00000456015.7 Homo sapiens solute carrier family <b>30</b> member 8 SLC30A8 transcript variant 1 mRNA from RefSeq 
MED30 (ENST00000297347.7) at chr8:117520713-117540262 - MED30 ENST00000297347.7 Homo sapiens mediator complex subunit <b>30</b> MED30 transcript variant 1 mRNA from RefSeq NM_080651 ENST00000297347.1 
USP30 (ENST00000257548.10) at chr12:109052576-109088023 - USP30 ENST00000257548.10 Homo sapiens ubiquitin specific peptidase <b>30</b> USP30 transcript variant 1 mRNA from RefSeq NM_032663 ENST00000257548.1 
TRAV30 (ENST00000557168.1) at chr14:22168429-22168988 - TRAV30 ENST00000557168.1 T cell receptor alpha variable <b>30</b> from HGNC TRAV30 A0A087WSZ9 AB977086 uc058zel.1 uc058zel.1 
TRAJ30 (ENST00000390507.1) at chr14:22512852-22512908 - TRAJ30 ENST00000390507.1 T cell receptor alpha joining <b>30</b> from HGNC TRAJ30 A0A075B6Y1 HM635328 uc058zgk.1 uc058zgk.1 
SLC30A4 (ENST00000261867.5) at chr15:45479606-45522755 - SLC30A4 ENST00000261867.5 Homo sapiens solute carrier family <b>30</b> member 4 SLC30A4 transcript variant 1 mRNA from RefSeq 
ZNF30 (ENST00000601142.2) at chr19:34926903-34945168 - ZNF30 ENST00000601142.2 Homo sapiens zinc finger protein <b>30</b> ZNF30 transcript variant 3 mRNA from RefSeq NM_194325 A5PLP1 
TRBV30 (ENST00000631690.1) at chr7_KI270803v1_alt:835559-836372 - TRBV30 ENST00000631690.1 T cell receptor beta variable <b>30</b> gene pseudogene from HGNC TRBV30 A0A0K0K1B3 AB977949 uc303rvb.1 uc303rvb.1 
ARHGAP30 (ENST00000368013.8) at chr1:161046946-161069891 - ARHGAP30 ENST00000368013.8 Homo sapiens Rho GTPase activating protein <b>30</b> ARHGAP30 transcript variant 1 mRNA from RefSeq NM_001025598 ENST00000368013.1 
KLHL30 (ENST00000409223.2) at chr2:238138668-238152947 - KLHL30 ENST00000409223.2 Homo sapiens kelch like family member <b>30</b> KLHL30 mRNA from RefSeq NM_198582 ENST00000409223.1 KLH30_HUMAN NM_198582 Q0D2K2 
SMIM30 (ENST00000397764.8) at chr7:113116718-113118554 - SMIM30 ENST00000397764.8 Homo sapiens small integral membrane protein <b>30</b> SMIM30 transcript variant 2 mRNA from RefSeq NM_001352688 A4D0T7 
SNX30 (ENST00000374232.8) at chr9:112750760-112874987 - SNX30 ENST00000374232.8 Homo sapiens sorting nexin family member <b>30</b> SNX30 mRNA from RefSeq NM_001012994 ENST00000374232.1 ENST00000374232.2 ENST00000374232.3 ENST00000374232.4 
TBC1D30 (ENST00000539867.6) at chr12:64824647-64881033 - TBC1D30 ENST00000539867.6 Homo sapiens TBC1 domain family member <b>30</b> TBC1D30 transcript variant 1 mRNA from RefSeq NM_015279 B3KP01 
TAS2R30 (ENST00000539585.1) at chr12:11132958-11134644 - TAS2R30 ENST00000539585.1 Homo sapiens taste 2 receptor member <b>30</b> TAS2R30 mRNA from RefSeq NM_001097643 NM_001097643 P59541 Q645X7 T2R30_HUMAN 
LRRC30 (ENST00000383467.3) at chr18:7231089-7232044 - LRRC30 ENST00000383467.3 Homo sapiens leucine rich repeat containing <b>30</b> LRRC30 mRNA from RefSeq NM_001105581 A6NM36 ENST00000383467.1 ENST00000383467.2 LRC30_HUMAN 
SNORD30 (ENST00000391309.1) at chrX:114017033-114017102 - SNORD30 ENST00000391309.1 small nucleolar RNA C D box <b>30</b> from HGNC SNORD30 uc065aud.1 uc065aud.1 
TAS2R30 (ENST00000576640.1) at chr12_GL877876v1_alt:363612-365298 - TAS2R30 ENST00000576640.1 Homo sapiens taste 2 receptor member <b>30</b> TAS2R30 mRNA from RefSeq NM_001097643 NM_001097643 P59541 Q645X7 T2R30_HUMAN 
TAS2R30 (ENST00000632763.1) at chr12_KI270904v1_alt:328319-329278 - TAS2R30 ENST00000632763.1 Homo sapiens taste 2 receptor member <b>30</b> TAS2R30 mRNA from RefSeq NM_001097643 A0A0J9YWI7 NM_001097643 uc303tem.1 uc303tem.1 
FAM30A (ENST00000633766.1) at chr14_KI270846v1_alt:385748-400411 - FAM30A ENST00000633766.1 Homo sapiens family with sequence similarity <b>30</b> member A FAM30A long non-coding RNA from RefSeq NR_026800 
SLC25A30 (ENST00000519676.6) at chr13:45393316-45418373 - SLC25A30 ENST00000519676.6 Homo sapiens solute carrier family 25 member <b>30</b> SLC25A30 transcript variant 1 mRNA nuclear gene for mitochondrial 
SNORD30 (ENST00000384693.1) at chr11:62853663-62853732 - SNORD30 ENST00000384693.1 Homo sapiens small nucleolar RNA C D box <b>30</b> SNORD30 small nucleolar RNA from RefSeq NR_002561 NR_002561 uc001nvw.1 
SNORA30 (ENST00000384028.1) at chr16:30710537-30710665 - SNORA30 ENST00000384028.1 Homo sapiens small nucleolar RNA H ACA box <b>30</b> SNORA30 small nucleolar RNA from RefSeq NR_002966 NR_002966 uc002dzh.1 
ZSCAN30 (ENST00000333206.10) at chr18:35251062-35290229 - ZSCAN30 ENST00000333206.10 Homo sapiens zinc finger and SCAN domain containing <b>30</b> ZSCAN30 transcript variant 2 mRNA from RefSeq NM_001112734 B4E0N0 
USP17L30 (ENST00000504104.1) at chr4:9363129-9364721 -  ... ENST00000504104.1 Homo sapiens ubiquitin specific peptidase 17 like family member <b>30</b> USP17L30 mRNA from RefSeq NM_001256867 A8MRA9 NM_001256867 Q0WX56 Q0WX57 
MRPS22 (ENST00000495075.5) at chr3:139005806-139357046 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins from UniProt P82650 AF321613 C3orf5 ENST00000495075.1 ENST00000495075.2 
HBM (ENST00000356815.4) at chr16:165978-166764 -  ... alpha globin gene cluster located on chromosome 16 spans about <b>30</b> kb and includes seven loci 5 zeta pseudozeta mu 
WDR3 (ENST00000349139.6) at chr1:117929739-117966543 -  ... nuclear protein containing 10 WD repeats WD repeats are approximately <b>30</b> to 40-amino acid domains containing several conserved residues which 
WDR1 (ENST00000499869.7) at chr4:10074339-10116799 -  ... a protein containing 9 WD repeats WD repeats are approximately <b>30</b> to 40-amino acid domains containing several conserved residues mostly 
WDR5B (ENST00000330689.6) at chr3:122411846-122416062 -  ... a protein containing several WD40 repeats WD repeats are approximately <b>30</b> to 40-amino acid domains containing several conserved residues including 
ZNF99 (ENST00000596209.4) at chr19:22752183-22784151 -  ... Probable Belongs to the krueppel C2H2-type zinc-finger protein family Contains <b>30</b> C2H2-type zinc fingers Contains 1 KRAB domain nucleic acid 
ZNF425 (ENST00000378061.7) at chr7:149102784-149126324 -  ... Nucleus Cytoplasm Note Predominantly expressed in the nucleus Expressed in <b>30</b> days old embryos Almost undetectable in 60 days old 
ACTL8 (ENST00000375406.2) at chr1:17755333-17827063 -  ... Belongs to the actin family Sequence AAA62476.1 Type Frameshift Positions <b>30</b> 49 110 127 141 344 347 354 protein binding 
NUP37 (ENST00000552283.6) at chr12:102073103-102120114 -  ... cytoplasm and the nucleus NPCs consist of multiple copies of <b>30</b> distinct proteins nucleoporins which assemble into biochemically-separable subcomplexes The 
HBA1 (ENST00000320868.9) at chr16:176680-177522 -  ... alpha globin gene cluster located on chromosome 16 spans about <b>30</b> kb and includes seven loci 5 zeta pseudozeta mu 
CAPN11 (ENST00000398776.2) at chr6:44158820-44184401 -  ... consist of a variable 80 kDa subunit and an invariant <b>30</b> kDa subunit This calpain protein appears to have protease 
HBA2 (ENST00000251595.11) at chr16:172876-173710 -  ... alpha globin gene cluster located on chromosome 16 spans about <b>30</b> kb and includes seven loci 5 zeta pseudozeta mu 
SDSL (ENST00000403593.9) at chr12:113422380-113438276 -  ... 3 L-threonine 2-oxobutanoate NH 3 Pyridoxal phosphate Kinetic parameters KM <b>30</b> mM for serine KM 7 mM for threonine Homodimer 
LIPF (ENST00000238983.9) at chr10:88664442-88678814 -  ... of dietary triglycerides in the gastrointestinal tract and responsible for <b>30</b> of fat digestion processes occurring in human It is 
HENMT1 (ENST00000370032.9) at chr1:108648295-108661526 -  ... the 3 end of piRNAs a class of 24 to <b>30</b> nucleotide RNAs that are generated by a Dicer-independent mechanism 
MAGEE1 (ENST00000361470.4) at chrX:76427710-76431342 -  ... The protein contains a nuclear localization signal in the N-terminus <b>30</b> 12-amino acid repeats beginning at nt 60 with the 
NUP188 (ENST00000372577.2) at chr9:128947699-129007096 -  ... the cytoplasm and nucleoplasm The NPC is comprised of approximately <b>30</b> distinct proteins collectively known as nucleoporins Nucleoporins are pore-complex-specific 
C1QTNF8 (ENST00000328449.6) at chr16:1088226-1096244 -  ... collagen-like domain Sequence AAQ89191.1 Type Miscellaneous discrepancy Note Contains a <b>30</b> bp insertion which does not match the genome Sequence 
ZNF721 (ENST00000511833.3) at chr4:439988-499156 -  ... VSP_040879 Belongs to the krueppel C2H2-type zinc-finger protein family Contains <b>30</b> C2H2-type zinc fingers Sequence CAH10687.1 Type Frameshift Positions 246 
GOLM2 (ENST00000299957.11) at chr15:44288719-44415758 -  ... and resulting overexpression of this proto-oncogene are found in approximately <b>30</b> of human breast and 20 of human ovarian cancers 
SEH1L (ENST00000262124.15) at chr18:12947995-12987536 -  ... and shares 34 amino acid identity with yeast Seh1 and <b>30</b> identity with yeast Sec13 All constituents of the Nup107-160 
CPSF4 (ENST00000292476.10) at chr7:99438943-99457373 -  ... domain The NS1 effector domain functionally interacts with the cellular <b>30</b> kDa subunit of cleavage and polyadenylation specific factor 4 
IKBKE (ENST00000581977.7) at chr1:206470476-206496889 -  ... MIM 114480 oncogene and is amplified and overexpressed in over <b>30</b> of breast carcinomas and breast cancer cell lines Hutti 
ZNF189 (ENST00000374861.7) at chr9:101398873-101410660 -  ... type summarized by Odeberg et al 1998 PubMed 9653648 Approximately <b>30</b> of human Kruppel-like zinc finger proteins contain an N-terminal 
EML6 (ENST00000356458.8) at chr2:54723662-54972025 -  ... Sequence VSP_034221 Belongs to the WD repeat EMAP family Contains <b>30</b> WD repeats cytoplasm cytoskeleton microtubule microtubule binding uc002ryb.1 uc002ryb.2 
VCX2 (ENST00000317103.5) at chrX:8169944-8171267 -  ... of VCX genes This gene contains two copies of a <b>30</b> nt tandem repeat Deletion of a nearby member of 
SIK1 (ENST00000270162.8) at chr21:43414483-43427131 -  ... in this gene is associated with early infantile epileptic encephalopathy <b>30</b> provided by RefSeq Nov 2016 Publication Note This RefSeq 
TMEM176B (ENST00000447204.6) at chr7:150791287-150801360 -  ... to the TMEM176 family Sequence AAH91471.1 Type Erroneous termination Positions <b>30</b> Note Translated as Glu nucleus animal organ morphogenesis membrane 
RPS26 (ENST00000356464.10) at chr12:56041351-56044676 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
CREBL2 (ENST00000228865.3) at chr12:12611876-12645108 -  ... bZip domain of CREB The bZip domain consists of about <b>30</b> amino acids rich in basic residues involved in DNA 
IGHM (ENST00000390559.6) at chr14:105854220-105856218 -  ... It is also found in soluble form which represents about <b>30</b> of the total serum immunoglobulins where it is found 
IGHM (ENST00000626472.2) at chr14_KI270846v1_alt:321989-323987 -  ... It is also found in soluble form which represents about <b>30</b> of the total serum immunoglobulins where it is found 
BDH2 (ENST00000296424.9) at chr4:103077592-103099834 -  ... mM for R-hydroxybutyrate Vmax 82 nmol min mg enzyme at <b>30</b> degrees Celsius pH dependence Optimum pH is 7.5-9.0 Siderophore 
RNH1 (ENST00000617351.4) at chr11_KI270832v1_alt:24202-36941 -  ... on its interior side The N-terminus is blocked At least <b>30</b> of the 32 cysteine residues are in the reduced 
PHYKPL (ENST00000308158.10) at chr5:178208471-178232802 -  ... Pyridoxal phosphate Kinetic parameters KM 16 uM for 5-phosphohydroxy-L-lysine at <b>30</b> degrees Celsius Vmax 256 nmol min mg enzyme Homotetramer 
RNH1 (ENST00000356187.9) at chr11:494561-507300 -  ... on its interior side The N-terminus is blocked At least <b>30</b> of the 32 cysteine residues are in the reduced 
NMRK2 (ENST00000616156.4) at chr19:3933103-3942414 -  ... 0.19 mM for nicotinamide riboside with ATP as cosubstrate KM <b>30</b> mM for nicotinamide riboside with GTP as cosubstrate KM 
CCDC149 (ENST00000504487.5) at chr4:24806117-24912886 -  ... initiation Note Translation N-terminally extended Sequence BAC86142.1 Type Frameshift Positions <b>30</b> uc003grc.1 uc003grc.2 uc003grc.3 uc003grc.4 
WASHC5 (ENST00000318410.12) at chr8:125024260-125091792 -  ... of the longest descending and ascending corticospinal tracts More than <b>30</b> loci SPG1-33 have been implicated in hereditary spastic paraplegia 
SLC50A1 (ENST00000368404.9) at chr1:155135852-155138853 -  ... from that shown due to frameshifts in positions 29 and <b>30</b> Name 3 IsoId Q9BRV3-3 Sequence VSP_034918 Ubiquitously expressed with 
CLCA4 (ENST00000370563.3) at chr1:86547078-86580754 -  ... cell membrane By similarity Secreted By similarity Note The C-terminus <b>30</b> kDa form is anchored to the membrane By similarity 
PAH (ENST00000553106.6) at chr12:102836889-102917244 -  ... 150 uM for L-Phe with BH 4 as cofactor KM <b>30</b> uM for BH 4 Vmax 3640 nmol min mg 
OSBPL8 (ENST00000261183.8) at chr12:76351797-76559771 -  ... family Contains 1 PH domain Sequence AAG53411.1 Type Frameshift Positions <b>30</b> Sequence BAA95975.3 Type Erroneous initiation phosphatidylserine binding phospholipid transporter 
RNU2-1 (ENST00000618664.1) at chr17:43233787-43233977 -  ... of the U2 snRNA Arrays of six to more than <b>30</b> repeats have been reported provided by RefSeq Mar 2009 
MME (ENST00000492661.5) at chr3:155024124-155180849 -  ... is almost confined on acting on polypeptides of up to <b>30</b> amino acids Biologically important in the destruction of opioid 
TUBB2A (ENST00000333628.4) at chr6:3153666-3157544 -  ... cytoskeleton By similarity High expression in brain where it represents <b>30</b> of all beta-tubulins Some glutamate residues at the C-terminus 
TGS1 (ENST00000260129.6) at chr8:55773446-55826445 -  ... m 2 2 7 G 5 pppR-RNA Kinetic parameters KM <b>30</b> uM for m 7 GDP KM 5 uM for 
TSIX (ENST00000604411.1) at chrX:73792205-73829231 -  ... is thought to be unspliced and extend over more than <b>30</b> kb but its exact nature has not been determined 
TCN1 (ENST00000257264.4) at chr11:59852808-59866487 -  ... Transports cobalamin into cells Secreted Neutrophil granule protein Contains about <b>30</b> carbohydrates Belongs to the eukaryotic cobalamin transport proteins family 
FSCN2 (ENST00000417245.7) at chr17:81528377-81537130 -  ... Defects in FSCN2 are the cause of retinitis pigmentosa type <b>30</b> RP30 MIM 607921 RP leads to degeneration of retinal 
HJV (ENST00000336751.11) at chr1:146017470-146021735 -  ... fibrosis or cirrhosis and cardiomyopathy occurring typically before age of <b>30</b> provided by RefSeq Oct 2015 Publication Note This RefSeq 
RNASE7 (ENST00000298690.5) at chr14:21042362-21044233 -  ... pathogenic microorganisms and remarkably potent activity lethal dose of 90 <b>30</b> nM against a vancomycin resistant Enterococcus faecium Secreted Expressed 
MRPS14 (ENST00000476371.1) at chr1:175012958-175023425 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins By similarity Q9NY93 DDX56 NbExp 1 IntAct 
PIWIL3 (ENST00000332271.9) at chr22:24719034-24774716 -  ... of transposons Directly binds piRNAs a class of 24 to <b>30</b> nucleotide RNAs that are generated by a Dicer-independent mechanism 
PHF7 (ENST00000327906.8) at chr3:52410660-52423641 -  ... germ cells in adult testis Expression in embryonic testis is <b>30</b> times lower Highly expressed in colon spleen white blood 
MRPS34 (ENST00000397375.7) at chr16:1771895-1773134 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion structural constituent of ribosome mitochondrion mitochondrial 
PIP4K2B (ENST00000613180.2) at chr17_KI270857v1_alt:2801008-2835224 -  ... 1-phosphatidyl-1D-myo-inositol 5 phosphate ADP 1-phosphatidyl-1D-myo-inositol 4 5-bisphosphate Kinetic parameters KM <b>30</b> uM for phosphatidylinositol-5 phosphate Vmax 0.2 pmol min ug 
PIP4K2B (ENST00000619039.5) at chr17:38765691-38799556 -  ... 1-phosphatidyl-1D-myo-inositol 5 phosphate ADP 1-phosphatidyl-1D-myo-inositol 4 5-bisphosphate Kinetic parameters KM <b>30</b> uM for phosphatidylinositol-5 phosphate Vmax 0.2 pmol min ug 
PIWIL1 (ENST00000613226.2) at chr12_KI270833v1_alt:14812-49543 -  ... transposons Directly binds methylated piRNAs a class of 24 to <b>30</b> nucleotide RNAs that are generated by a Dicer independent 
MRPS25 (ENST00000253686.7) at chr3:15048512-15065315 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S25 
PAFAH1B3 (ENST00000538771.5) at chr19:42297033-42302777 -  ... IB is formed of three subunits of 45 kDa alpha <b>30</b> kDa beta and 29 kDa gamma The catalytic activity 
PIWIL1 (ENST00000245255.7) at chr12:130337887-130372637 -  ... transposons Directly binds methylated piRNAs a class of 24 to <b>30</b> nucleotide RNAs that are generated by a Dicer independent 
RPS17 (ENST00000617731.2) at chr15_KI270850v1_alt:325859-329670 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
RPS17 (ENST00000647841.1) at chr15:82536750-82540457 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
CBR1 (ENST00000290349.11) at chr21:36070024-36073164 -  ... Inhibited by quercetin rutenin and its derivatives Kinetic parameters KM <b>30</b> uM for S-nitrosoglutathione KM 22 uM for menadione KM 
KIF1A (ENST00000649096.1) at chr2:240713761-240820372 -  ... KIF1A are the cause of spastic paraplegia autosomal recessive type <b>30</b> SPG30 MIM 610357 SPG30 is a form of spastic 
EYS (ENST00000503581.6) at chr6:63719980-65707226 -  ... and deterioration of visual acuity central vision beginning at approximately <b>30</b> years of age By age 55 to 60 years 
PIWIL4 (ENST00000299001.11) at chr11:94567368-94621421 -  ... of transposons Directly binds piRNAs a class of 24 to <b>30</b> nucleotide RNAs that are generated by a Dicer-independent mechanism 
CNDP1 (ENST00000358821.8) at chr18:74534500-74587212 -  ... 5 uM Kinetic parameters KM 1.27 uM for carnosine at <b>30</b> degrees Celsius and in the absence of cadmium ions 
MRPS9 (ENST00000258455.8) at chr2:105038069-105099960 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins By similarity P04618 rev xeno NbExp 2 
MRPS21 (ENST00000614145.5) at chr1:150293861-150308979 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S21P 
MRPS35 (ENST00000081029.8) at chr12:27710832-27756295 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins By similarity Mitochondrion By similarity Event Alternative 
MRPS36 (ENST00000613100.1) at chr5_GL339449v2_alt:942-13309 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion structural constituent of ribosome mitochondrion mitochondrial 
SUPV3L1 (ENST00000359655.9) at chr10:69180234-69209093 -  ... dependence Optimum pH is 5.0 Temperature dependence Optimum temperature is <b>30</b> degrees Celsius Homodimer in free form Component of the 
MRPS26 (ENST00000380325.4) at chr20:3046052-3048250 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion RNA binding nucleoplasm mitochondrion mitochondrial inner 
DPF2 (ENST00000528416.6) at chr11:65333852-65354262 -  ... the development and maturation of lymphoid cells Nucleus Cytoplasm Note <b>30</b> nuclear 70 cytoplasmic Ubiquitous Belongs to the requiem DPF 
MRPS36 (ENST00000256441.5) at chr5:69217760-69230158 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion structural constituent of ribosome mitochondrion mitochondrial 
MRPS28 (ENST00000276585.9) at chr8:79918717-80030259 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion RNA binding mitochondrion mitochondrial inner membrane 
PRDX5 (ENST00000265462.9) at chr11:64318121-64321811 -  ... Contains 1 thioredoxin domain Sequence AAF17200.1 Type Frameshift Positions 14 <b>30</b> Name NIEHS-SNPs URL http egp.gs.washington.edu data prdx5 RNA polymerase 
MRPS23 (ENST00000313608.13) at chr17:57834781-57850044 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins By similarity Mitochondrion Sequence AAD34133.1 Type Frameshift 
MRPS18C (ENST00000295491.9) at chr4:83456058-83462298 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S18P 
ARHGAP26 (ENST00000645722.2) at chr5:142770377-143229007 -  ... 607785 JMML is a pediatric myelodysplastic syndrome that constitutes approximately <b>30</b> of childhood cases of myelodysplastic syndrome MDS and 2 
MRPS18A (ENST00000372133.8) at chr6:43671202-43687791 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Event Alternative splicing Named isoforms 3 
MRPS12 (ENST00000634246.1) at chr19_KQ458386v1_fix:340220-342692 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins P58062 SPINK7 NbExp 3 IntAct EBI-712205 EBI-1182445 
MRPS33 (ENST00000324787.10) at chr7:141002610-141014952 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion structural constituent of ribosome mitochondrion mitochondrial 
DAP3 (ENST00000368336.10) at chr1:155689091-155739010 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Interacts with KIAA0141 Interacts with NOA1 Q8NC60 
NDUFS3 (ENST00000263774.9) at chr11:47579074-47584562 -  ... EBI-1224896 EBI-1224806 Mitochondrion inner membrane Belongs to the complex I <b>30</b> kDa subunit family NADH dehydrogenase activity protein binding mitochondrion 
MRPS17 (ENST00000285298.9) at chr7:55951877-55956500 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S17P 
MRPS12 (ENST00000308018.9) at chr19:38930944-38933168 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins P58062 SPINK7 NbExp 3 IntAct EBI-712205 EBI-1182445 
MRPS2 (ENST00000371785.5) at chr9:135499984-135504673 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S2P 
MRPS6 (ENST00000399312.3) at chr21:34073578-34143030 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S6P 
MRPS7 (ENST00000245539.11) at chr17:75261879-75266376 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins By similarity Mitochondrion By similarity Belongs to 
ZP2 (ENST00000638300.1) at chr16_KV880768v1_fix:21143-38201 -  ... cortical granules after fertilization yielding a N-terminal peptide of about <b>30</b> kDa which remains covalently attached to the C-terminal peptide 
PPM1K (ENST00000608933.6) at chr4:88257620-88284561 -  ... p-nitrophenylphosphate Vmax 3.6 umol min mg enzyme toward p-nitrophenylphosphate at <b>30</b> degrees Celsius Vmax 4 nmol min mg enzyme toward 
CYP4V2 (ENST00000378802.5) at chr4:186191567-186213463 -  ... for myristic acid and for lauric acid and reduced about <b>30</b> for palmitic acid Endoplasmic reticulum membrane Single-pass membrane protein 
ZP2 (ENST00000574002.1) at chr16:21197452-21214510 -  ... cortical granules after fertilization yielding a N-terminal peptide of about <b>30</b> kDa which remains covalently attached to the C-terminal peptide 
MRPS24 (ENST00000317534.6) at chr7:43866558-43869517 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins By similarity Mitochondrion By similarity Sequence AAF29013.1 
MRPS31 (ENST00000323563.8) at chr13:40729128-40771190 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins P40763 STAT3 NbExp 2 IntAct EBI-720602 EBI-518675 
MRPS15 (ENST00000373116.6) at chr1:36455718-36464384 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Belongs to the ribosomal protein S15P 
MYO3A (ENST00000642920.2) at chr10:25934229-26212532 -  ... in MYO3A are the cause of deafness autosomal recessive type <b>30</b> DFNB30 MIM 607101 DFNB30 is a form of sensorineural 
RPS7 (ENST00000645674.2) at chr2:3575260-3580920 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
ZNF521 (ENST00000361524.8) at chr18:25061924-25352166 -  ... ZNF521 Belongs to the krueppel C2H2-type zinc-finger protein family Contains <b>30</b> C2H2-type zinc fingers Sequence ABI33104.1 Type Erroneous initiation Sequence 
MRPS5 (ENST00000272418.7) at chr2:95085369-95121808 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Event Alternative splicing Named isoforms 2 
EPX (ENST00000225371.6) at chr17:58192726-58205174 -  ... C-5 positions The ester linkage to Asp-232 was observed in <b>30</b> of the chains Tetramer of two light chains and 
DHCR7 (ENST00000355527.8) at chr11:71434411-71448393 -  ... in relatively high frequency approximately 1 in 20 000 to <b>30</b> 000 births in populations of northern and central European 
MRPS30 (ENST00000507110.6) at chr5:44808947-44815514 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Heart skeletal muscle kidney and liver 
MRPS16 (ENST00000372945.8) at chr10:73248849-73252644 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Defects in MRPS16 are the cause 
CCHCR1 (ENST00000425620.6) at chr6_GL000251v2_alt:2624870-2640641 -  ... usual age of onset of psoriasis is between 15 and <b>30</b> years although it can present at any age Association 
CCHCR1 (ENST00000383341.8) at chr6_GL000252v2_alt:2401761-2417533 -  ... usual age of onset of psoriasis is between 15 and <b>30</b> years although it can present at any age Association 
CCHCR1 (ENST00000383527.8) at chr6_GL000255v2_alt:2400454-2416245 -  ... usual age of onset of psoriasis is between 15 and <b>30</b> years although it can present at any age Association 
NEIL1 (ENST00000355059.9) at chr15:75347039-75357115 -  ... Note The edited form removes thymine glycol from duplex DNA <b>30</b> times more slowly than the form encoded in the 
CCHCR1 (ENST00000376266.9) at chr6:31142439-31158238 -  ... usual age of onset of psoriasis is between 15 and <b>30</b> years although it can present at any age Association 
MRPL42 (ENST00000552217.6) at chr12:93467514-93516214 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Has been found in the mitochondrial 
CTLA4 (ENST00000648405.2) at chr2:203867771-203873965 -  ... lymphoid tissues Detected in activated T-cells where expression levels are <b>30</b> to 50-fold less than CD28 the stimulatory coreceptor on 
NUDT1 (ENST00000356714.6) at chr7:2242226-2251145 -  ... and 2-OH-dATP Kinetic parameters KM 8.3 uM for 2-hydroxy-dATP at <b>30</b> degrees Celsius and pH 8.0 PubMed 11139615 KM 5.7 
MRPS11 (ENST00000325844.9) at chr15:88467708-88480776 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Mitochondrion Event Alternative splicing Named isoforms 3 
RPL35A (ENST00000647248.2) at chr3:197950190-197956610 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
METAP2 (ENST00000323666.10) at chr12:95474152-95515839 -  ... similarity Binds EIF2S1 at low magnesium concentrations Cytoplasm Note About <b>30</b> of expressed METAP2 associates with polysomes Contains approximately 12 
RPL5 (ENST00000370321.8) at chr1:92832040-92841924 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
IFI30 (ENST00000407280.4) at chr19:18173813-18178117 -  ... 35 kDa precursor which is then processed into the mature <b>30</b> kDa form via cleavage of N-terminal and C terminal 
MRPS18B (ENST00000454427.6) at chr6_GL000251v2_alt:2097433-2106119 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Q9UBC1 NFKBIL1 NbExp 1 IntAct EBI-750085 EBI-1043728 
MRPS18B (ENST00000430402.6) at chr6_GL000252v2_alt:1873539-1882225 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Q9UBC1 NFKBIL1 NbExp 1 IntAct EBI-750085 EBI-1043728 
MRPS18B (ENST00000451032.6) at chr6_GL000253v2_alt:1927938-1936624 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Q9UBC1 NFKBIL1 NbExp 1 IntAct EBI-750085 EBI-1043728 
MRPS18B (ENST00000426945.6) at chr6_GL000254v2_alt:1961757-1970443 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Q9UBC1 NFKBIL1 NbExp 1 IntAct EBI-750085 EBI-1043728 
MRPS18B (ENST00000412451.6) at chr6_GL000256v2_alt:1918467-1927153 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Q9UBC1 NFKBIL1 NbExp 1 IntAct EBI-750085 EBI-1043728 
MRPS18B (ENST00000259873.5) at chr6:30617840-30626392 -  ... small subunit 28S which comprises a 12S rRNA and about <b>30</b> distinct proteins Q9UBC1 NFKBIL1 NbExp 1 IntAct EBI-750085 EBI-1043728 
SLC22A6 (ENST00000360421.9) at chr11:62976597-62984967 -  ... 11 uM for edaravone KM 46 uM for cidofovir KM <b>30</b> uM for adefovir KM 5.77 uM for 2 4-D 
DHODH (ENST00000219240.9) at chr16:72008744-72027659 -  ... nonconsanguineous parents have been described among a total of around <b>30</b> reported cases The identification of DHODH defects as the 
FADD (ENST00000301838.5) at chr11:70203296-70207390 -  ... CASP8 Self NbExp 3 IntAct EBI-494804 EBI-494804 Q14790 CASP8 NbExp <b>30</b> IntAct EBI-494804 EBI-78060 Q14790-1 CASP8 NbExp 5 IntAct EBI-494804 
S1PR5 (ENST00000439028.3) at chr19:10512947-10517931 -  ... some of them terminate at blood vessels Between 28 and <b>30</b> weeks of gestation all iso and allocortical areas contain 
MASP1 (ENST00000337774.10) at chr3:187217282-187291737 -  ... and A2M Kinetic parameters KM 0.10 mM for Ac-Gly-Lys-OMe at <b>30</b> degrees Celsius KM 310 uM for Bz-Arg-OEt at 30 
RPS10 (ENST00000648437.1) at chr6:34417454-34426069 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
NF1 (ENST00000358273.9) at chr17:31094977-31377675 -  ... 607785 JMML is a pediatric myelodysplastic syndrome that constitutes approximately <b>30</b> of childhood cases of myelodysplastic syndrome MDS and 2 
FANCI (ENST00000310775.12) at chr15:89243979-89317131 -  ... Sequence VSP_026069 Name 4 IsoId Q9NVI1-4 Sequence VSP_035606 The C-terminal <b>30</b> residues are probably required for function in DNA repair 
LIN28B (ENST00000345080.5) at chr6:104957107-105083332 -  ... localization in S and in G2 phases is 60 and <b>30</b> respectively Event Alternative splicing Named isoforms 2 Name 1 
CCL13 (ENST00000225844.7) at chr17:34356480-34358610 -  ... 30-fold less active than the long chain Mass 9314 Mass_error <b>30</b> Method MALDI Range 17-98 Source PubMed 8642349 Mass 8760 
FGF9 (ENST00000382353.6) at chr13:21671073-21704498 -  ... as coreceptors Secreted Glial cells Three molecular species were found <b>30</b> kDa 29 kDa and 25 kDa cleaved at Leu-4 
NEFH (ENST00000310624.7) at chr22:29480218-29491390 -  ... number of repeats is shown to vary between 29 and <b>30</b> Defects in NEFH are a cause of susceptibility to 
FAS (ENST00000652046.1) at chr10:88990798-89017059 -  ... Q9UER7 DAXX NbExp 2 IntAct EBI-494743 EBI-77321 Q13158 FADD NbExp <b>30</b> IntAct EBI-494743 EBI-494804 P48023 FASLG NbExp 3 IntAct EBI-494743 
CRP (ENST00000255030.9) at chr1:159712289-159714589 -  ... crp Name Protein Spotlight Note No more Christmas pudding Issue <b>30</b> of January 2003 URL http web.expasy.org spotlight back_issues sptlt030.shtml 
PRKX (ENST00000262848.6) at chrX:3604340-3713649 -  ... for kemptide in the presence of 1 uM Br-cAMP at <b>30</b> degrees Celsius Like other cAMP-dependent protein kinases the inactive 
MCFD2 (ENST00000409207.5) at chr2:46904958-46941732 -  ... V and VIII are in the range of 5 to <b>30</b> of normal Contains 2 EF-hand domains Sequence CAD38756.1 Type 
RPS19 (ENST00000598742.6) at chr19:41860255-41872925 -  ... severe macrocytic anemia erythroblastopenia and an increased risk of malignancy <b>30</b> to 40 of Diamond-Blackfan anemia patients present with short 
CRYAA (ENST00000291554.6) at chr21:43169008-43172805 -  ... Deamidation of Asn-101 in lens occurs mostly during the first <b>30</b> years of age followed by a small additional amount 
KRAS (ENST00000311936.8) at chr12:25205246-25250929 -  ... 607785 JMML is a pediatric myelodysplastic syndrome that constitutes approximately <b>30</b> of childhood cases of myelodysplastic syndrome MDS and 2 
ADGRV1 (ENST00000405460.9) at chr5:90558797-91164437 -  ... generalized onset single seizures with a duration of less than <b>30</b> minutes Complex febrile seizures are characterized by focal onset 
BRAF (ENST00000646891.2) at chr7:140730665-140924929 -  ... similarity Interacts with DGKH Interacts with PRMT5 P04049 RAF1 NbExp <b>30</b> IntAct EBI-365980 EBI-365996 Nucleus By similarity Cytoplasm Cell membrane 
TOR1A (ENST00000351698.5) at chr9:129812942-129824136 -  ... leg in middle to late childhood and progress in approximately <b>30</b> of patients to other body regions generalized dystonia within 
LMAN1 (ENST00000251047.6) at chr18:59327823-59359265 -  ... V and VIII are in the range of 5 to <b>30</b> of normal Contains 1 L-type lectin-like domain Golgi membrane 
CPA6 (ENST00000297770.10) at chr8:67422038-67746360 -  ... generalized onset single seizures with a duration of less than <b>30</b> minutes Complex febrile seizures are characterized by focal onset 
TLR3 (ENST00000296795.8) at chr4:186069156-186088073 -  ... The Phe-412 allele dbSNP rs3775291 occurs with a frequency of <b>30</b> in populations with European and Asian ancestry and confers 
SYNM (ENST00000336292.11) at chr15:99105080-99135593 -  ... subpopulation of cells in the inner cell layer INL At <b>30</b> and 36 weeks expression remains in the neural retina 
PAK3 (ENST00000446737.5) at chrX:110944285-111220918 -  ... PAK3 are the cause of mental retardation X linked type <b>30</b> MRX30 MIM 300558 also called X-linked mental retardation type 
FLCN (ENST00000285071.9) at chr17:17212212-17237168 -  ... are sporadic typically occurring in tall thin men aged 10 <b>30</b> years and generally while at rest Familial PSP is 
PEX26 (ENST00000329627.11) at chr22:18077923-18105396 -  ... patients suffering of NALD or IRD diseases are cultured at <b>30</b> degrees Celsius instead of 37 degrees possibly due to 
F8 (ENST00000360256.9) at chrX:154835792-155022723 -  ... have considerable amount of F8 in their plasma at least <b>30</b> of normal but the protein is non functional i.e 
COL4A1 (ENST00000375820.10) at chr13:110148963-110307157 -  ... BSVDH MIM 607595 Brain small vessel diseases underlie 20 to <b>30</b> percent of ischemic strokes and a larger proportion of 
KCNJ5 (ENST00000529694.6) at chr11:128891356-128921163 -  ... These are typically solitary well circumscribed tumors diagnosed between ages <b>30</b> and 70 They come to medical attention due to 
ANPEP (ENST00000559874.2) at chr15:89784895-89815401 -  ... activity in vitro in endometrial stromal cells by 40 and <b>30</b> respectively Amino acids 260-353 are essential to mediate susceptibility 
SUFU (ENST00000369902.8) at chr10:102503972-102633535 -  ... to desmoplastic MDB These tumors make up about 20 to <b>30</b> of medulloblastomas have a more nodular architecture than classical 
LRPPRC (ENST00000260665.12) at chr2:43886224-43995989 -  ... nearly absent in brain and liver LSFC patients show reduced <b>30</b> levels of LRPPRC in both fibroblast and liver mitochondria 
RANBP9 (ENST00000011619.6) at chr6:13621498-13711835 -  ... sequence Potential poly-A sequence Sequence AAH52781.1 Type Frameshift Positions 13 <b>30</b> 34 Sequence AAK15469.1 Type Erroneous initiation Note Translation N-terminally 
SMARCD1 (ENST00000394963.9) at chr12:50085342-50100707 -  ... family Contains 1 SWIB domain Sequence AAC50695.1 Type Frameshift Positions <b>30</b> Sequence AAD23390.1 Type Erroneous initiation Sequence AAH09368.3 Type Erroneous 
ATM (ENST00000675843.1) at chr11:108223067-108369102 -  ... immaturity AT patients have a strong predisposition to cancer about <b>30</b> of patients develop tumors particularly lymphomas and leukemias Cells 
CLU (ENST00000316403.15) at chr8:27596917-27614700 -  ... Golgi lumen Polyubiquitinated leading to proteasomal degradation Heavily N-glycosylated About <b>30</b> of the protein mass is comprised of complex N-linked 
PTPN11 (ENST00000351677.7) at chr12:112418947-112509918 -  ... 607785 JMML is a pediatric myelodysplastic syndrome that constitutes approximately <b>30</b> of childhood cases of myelodysplastic syndrome MDS and 2 
SCN9A (ENST00000409672.5) at chr2:166195185-166375993 -  ... generalized onset single seizures with a duration of less than <b>30</b> minutes Complex febrile seizures are characterized by focal onset 
COL2A1 (ENST00000380518.8) at chr12:47972967-48004476 -  ... is typically made when patients are between the ages of <b>30</b> and 60 years The clinical manifestations such as pain 
SHH (ENST00000297261.7) at chr7:155799980-155812463 -  ... of autosomal dominant inheritance have been described Interestingly up to <b>30</b> of obligate carriers of HPE3 gene in autosomal dominant 
GBA (ENST00000327247.9) at chr1:155234452-155244670 -  ... to treat Gaucher s disease Belongs to the glycosyl hydrolase <b>30</b> family Name Ceredase Note Clinical information on Ceredase URL 
RB1 (ENST00000267163.6) at chr13:48303751-48481890 -  ... about 2 of childhood malignancies It is bilateral in about <b>30</b> of cases Although most RB appear sporadically about 20 
CACNA1C (ENST00000347598.9) at chr12:2052987-2697950 -  ... Alpha-1C.74 IsoId Q13936-29 Sequence VSP_000887 VSP_000889 VSP_000891 VSP_000893 VSP_000895 Name <b>30</b> Synonyms Alpha-1C.87 IsoId Q13936-30 Sequence VSP_000889 VSP_000895 Name 31 
HLA-DPB1 (ENST00000454006.6) at chr6_GL000252v2_alt:4319457-4330724 -  ... DPB1 27 01 DPB1 28 01 DPB1 29 01 DPB1 <b>30</b> 01 DPB1 31 01 DPB1 32 01 DPB1 33 
HLA-DPB1 (ENST00000399500.6) at chr6_GL000255v2_alt:4270558-4281835 -  ... DPB1 27 01 DPB1 28 01 DPB1 29 01 DPB1 <b>30</b> 01 DPB1 31 01 DPB1 32 01 DPB1 33 
HLA-DPB1 (ENST00000418931.7) at chr6:33075990-33089696 -  ... DPB1 27 01 DPB1 28 01 DPB1 29 01 DPB1 <b>30</b> 01 DPB1 31 01 DPB1 32 01 DPB1 33 
HLA-DQB1 (ENST00000424806.1) at chr6_GL000253v2_alt:4076917-4086211 -  ... 06 27 DQB1 06 28 DQB1 06 29 DQB1 06 <b>30</b> DQB1 06 31 DQB1 06 32 DQB1 06 33 
More results...