GOLGB1 (golgin B1) - Rat Genome Database

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Gene: GOLGB1 (golgin B1) Homo sapiens
Analyze
Symbol: GOLGB1
Name: golgin B1
RGD ID: 1351894
HGNC Page HGNC:4429
Description: Enables RNA binding activity. Involved in protein localization to pericentriolar material. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 372 kDa Golgi complex-associated protein; DKFZp686F09142; FLJ37232; GCP; GCP372; giantin; golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1; golgi integral membrane protein 1; golgin B1, golgi integral membrane protein; Golgin subfamily B member 1; GOLIM1; macrogolgin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383121,663,201 - 121,749,966 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3121,663,199 - 121,749,966 (-)EnsemblGRCh38hg38GRCh38
GRCh373121,382,048 - 121,468,588 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363122,864,738 - 122,951,292 (-)NCBINCBI36Build 36hg18NCBI36
Build 343122,865,639 - 122,951,292NCBI
Celera3119,792,012 - 119,878,526 (-)NCBICelera
Cytogenetic Map3q13.33NCBI
HuRef3118,756,175 - 118,842,594 (-)NCBIHuRef
CHM1_13121,345,590 - 121,432,070 (-)NCBICHM1_1
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Insertional mutation in the Golgb1 gene is associated with osteochondrodysplasia and systemic edema in the OCD rat. Katayama K, etal., Bone. 2011 Nov;49(5):1027-36. doi: 10.1016/j.bone.2011.08.001. Epub 2011 Aug 7.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7691276   PMID:7802676   PMID:8198703   PMID:8889549   PMID:9490716   PMID:10744704   PMID:10931861   PMID:11035033   PMID:11590181   PMID:11927603   PMID:12429822   PMID:12477932  
PMID:14702039   PMID:14718574   PMID:14980500   PMID:15004235   PMID:15231748   PMID:15308636   PMID:15342556   PMID:15718469   PMID:16169070   PMID:17475246   PMID:18029348   PMID:18487259  
PMID:18685082   PMID:19946888   PMID:20467437   PMID:20682791   PMID:20936779   PMID:21697133   PMID:21873635   PMID:22558309   PMID:22572157   PMID:22658674   PMID:22792322   PMID:22939629  
PMID:23422753   PMID:23555793   PMID:24046448   PMID:24711643   PMID:24927568   PMID:24967714   PMID:24999758   PMID:25086069   PMID:25205765   PMID:25393110   PMID:25468996   PMID:25925205  
PMID:26186194   PMID:26496610   PMID:26664786   PMID:27542412   PMID:27812135   PMID:28065597   PMID:28298427   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28782625   PMID:29128334  
PMID:29180619   PMID:29430628   PMID:29507755   PMID:29509190   PMID:29568061   PMID:30021884   PMID:30194290   PMID:30453527   PMID:30581152   PMID:30890647   PMID:30945288   PMID:30979931  
PMID:31056421   PMID:31091453   PMID:31177093   PMID:31527615   PMID:31586073   PMID:31732153   PMID:31871319   PMID:31995728   PMID:32344865   PMID:32353859   PMID:32687490   PMID:32838362  
PMID:32877691   PMID:33022573   PMID:33060197   PMID:33111431   PMID:33397691   PMID:33845483   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34432599  
PMID:34597346   PMID:34702444   PMID:34709266   PMID:34709727   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35356984   PMID:35384245   PMID:35575683   PMID:35676659   PMID:35844135  
PMID:35906200   PMID:36215168   PMID:36237976   PMID:36243803   PMID:36261009   PMID:36594163   PMID:36931259   PMID:36976175   PMID:37071682   PMID:37232246   PMID:37689310   PMID:37827155  
PMID:38580884   PMID:39231216  


Genomics

Comparative Map Data
GOLGB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383121,663,201 - 121,749,966 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3121,663,199 - 121,749,966 (-)EnsemblGRCh38hg38GRCh38
GRCh373121,382,048 - 121,468,588 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363122,864,738 - 122,951,292 (-)NCBINCBI36Build 36hg18NCBI36
Build 343122,865,639 - 122,951,292NCBI
Celera3119,792,012 - 119,878,526 (-)NCBICelera
Cytogenetic Map3q13.33NCBI
HuRef3118,756,175 - 118,842,594 (-)NCBIHuRef
CHM1_13121,345,590 - 121,432,070 (-)NCBICHM1_1
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBIT2T-CHM13v2.0
Golgb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391636,695,455 - 36,753,447 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1636,695,502 - 36,753,447 (+)EnsemblGRCm39 Ensembl
GRCm381636,875,093 - 36,933,085 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1636,875,140 - 36,933,085 (+)EnsemblGRCm38mm10GRCm38
MGSCv371636,885,097 - 36,933,171 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361636,793,436 - 36,852,320 (+)NCBIMGSCv36mm8
Celera1637,295,881 - 37,343,987 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1626.19NCBI
Golgb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81177,348,573 - 77,406,165 (-)NCBIGRCr8
mRatBN7.21163,843,179 - 63,900,665 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1163,843,986 - 63,900,770 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1172,656,395 - 72,713,019 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01165,318,618 - 65,375,243 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01164,352,928 - 64,409,536 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01166,761,646 - 66,819,115 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1166,761,584 - 66,819,079 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01169,852,530 - 69,909,720 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41165,647,305 - 65,703,832 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11165,704,893 - 65,761,421 (-)NCBI
Celera1163,316,713 - 63,373,209 (-)NCBICelera
Cytogenetic Map11q21NCBI
Golgb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542721,021,894 - 21,105,049 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542721,022,369 - 21,108,448 (-)NCBIChiLan1.0ChiLan1.0
GOLGB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22119,620,315 - 119,710,409 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13119,625,092 - 119,715,193 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03118,765,467 - 118,852,005 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13125,673,966 - 125,760,826 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3125,673,966 - 125,760,584 (-)Ensemblpanpan1.1panPan2
GOLGB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13324,927,631 - 25,025,187 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3324,928,729 - 25,025,090 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3324,954,942 - 25,051,736 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03325,170,097 - 25,260,535 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3325,170,101 - 25,260,453 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13324,968,315 - 25,059,017 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03325,010,568 - 25,101,225 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03325,567,702 - 25,658,718 (-)NCBIUU_Cfam_GSD_1.0
Golgb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602129,372,227 - 129,436,201 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365368,085,777 - 8,149,986 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365368,085,805 - 8,149,764 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GOLGB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13138,754,789 - 138,847,245 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113138,754,803 - 138,847,254 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213148,381,843 - 148,474,839 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GOLGB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12259,124,023 - 59,223,181 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2259,143,188 - 59,223,656 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041107,101,367 - 107,196,704 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Golgb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473126,455,126 - 26,526,316 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473126,438,529 - 26,526,205 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GOLGB1
177 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1 copy number loss See cases [RCV000051569] Chr3:121644209..125676353 [GRCh38]
Chr3:121363056..125395197 [GRCh37]
Chr3:122845746..126877887 [NCBI36]
Chr3:3q13.33-21.2
pathogenic
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1
pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2
pathogenic
NM_004487.4(GOLGB1):c.8271delG (p.Arg2759Glyfs) deletion Malignant melanoma [RCV000060676] Chr3:121691078 [GRCh38]
Chr3:121409925 [GRCh37]
Chr3:122892615 [NCBI36]
Chr3:3q13.33
not provided
NM_004487.4(GOLGB1):c.6046G>A (p.Glu2016Lys) single nucleotide variant Malignant melanoma [RCV000060677] Chr3:121694462 [GRCh38]
Chr3:121413309 [GRCh37]
Chr3:122895999 [NCBI36]
Chr3:3q13.33
not provided
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1
pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3
pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2
pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3
pathogenic
GRCh37/hg19 3q13.33-21.1(chr3:119749810-122459323)x3 copy number gain See cases [RCV000240473] Chr3:119749810..122459323 [GRCh37]
Chr3:3q13.33-21.1
likely pathogenic
GRCh37/hg19 3q13.33(chr3:121449737-121631940)x3 copy number gain See cases [RCV000448696] Chr3:121449737..121631940 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4514A>G (p.Lys1505Arg) single nucleotide variant not specified [RCV004317563] Chr3:121696009 [GRCh38]
Chr3:121414856 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_001366282.2(GOLGB1):c.5107C>T (p.Arg1703Trp) single nucleotide variant not specified [RCV004291764] Chr3:121695416 [GRCh38]
Chr3:121414263 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.94C>A (p.Pro32Thr) single nucleotide variant not specified [RCV004326219] Chr3:121730878 [GRCh38]
Chr3:121449725 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1462G>A (p.Glu488Lys) single nucleotide variant not specified [RCV004323529] Chr3:121702538 [GRCh38]
Chr3:121421385 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q13.33(chr3:120626429-121419301)x3 copy number gain not provided [RCV000742716] Chr3:120626429..121419301 [GRCh37]
Chr3:3q13.33
benign
GRCh37/hg19 3q13.33(chr3:121288890-121387784)x3 copy number gain not provided [RCV000742718] Chr3:121288890..121387784 [GRCh37]
Chr3:3q13.33
benign
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541924] Chr3:120247726..128319968 [GRCh37]
Chr3:3q13.33-21.3
pathogenic
NM_001366282.2(GOLGB1):c.9320C>T (p.Ala3107Val) single nucleotide variant not specified [RCV004319769] Chr3:121669213 [GRCh38]
Chr3:121388060 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3656G>C (p.Arg1219Pro) single nucleotide variant not provided [RCV000971734] Chr3:121696867 [GRCh38]
Chr3:121696867..121696868 [GRCh38]
Chr3:121415714 [GRCh37]
Chr3:121415714..121415715 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.2557C>T (p.Leu853Phe) single nucleotide variant not provided [RCV000971735] Chr3:121697966 [GRCh38]
Chr3:121416813 [GRCh37]
Chr3:3q13.33
benign
NM_001366282.2(GOLGB1):c.8514C>A (p.Ser2838=) single nucleotide variant not provided [RCV000896470] Chr3:121690850 [GRCh38]
Chr3:121409697 [GRCh37]
Chr3:3q13.33
likely benign
GRCh37/hg19 3q13.33-21.1(chr3:121384741-123672180)x3 copy number gain not provided [RCV000848663] Chr3:121384741..123672180 [GRCh37]
Chr3:3q13.33-21.1
uncertain significance
NM_001366282.2(GOLGB1):c.9058G>C (p.Ala3020Pro) single nucleotide variant not specified [RCV004298068] Chr3:121677012 [GRCh38]
Chr3:121395859 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5269C>G (p.Leu1757Val) single nucleotide variant not specified [RCV004318668] Chr3:121695254 [GRCh38]
Chr3:121414101 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6866G>A (p.Gly2289Glu) single nucleotide variant not specified [RCV004301509] Chr3:121692498 [GRCh38]
Chr3:121411345 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3830A>G (p.Glu1277Gly) single nucleotide variant not specified [RCV004289454] Chr3:121696693 [GRCh38]
Chr3:121415540 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6665A>G (p.Asp2222Gly) single nucleotide variant not specified [RCV004328347] Chr3:121693858 [GRCh38]
Chr3:121412705 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4409A>T (p.Lys1470Met) single nucleotide variant not specified [RCV004291065] Chr3:121696114 [GRCh38]
Chr3:121414961 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1598G>A (p.Ser533Asn) single nucleotide variant not specified [RCV004301688] Chr3:121698925 [GRCh38]
Chr3:121417772 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1296C>G (p.Leu432=) single nucleotide variant not provided [RCV000896471] Chr3:121714969 [GRCh38]
Chr3:121433816 [GRCh37]
Chr3:3q13.33
likely benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31
pathogenic
NC_000003.11:g.(?_120365818)_(133465047_?)del deletion Alkaptonuria [RCV002035459] Chr3:120365818..133465047 [GRCh37]
Chr3:3q13.33-22.1
pathogenic
NC_000003.11:g.(?_121459590)_(121547499_?)del deletion Nephronophthisis [RCV003122312] Chr3:121459590..121547499 [GRCh37]
Chr3:3q13.33
pathogenic
NM_001366282.2(GOLGB1):c.9085G>T (p.Val3029Phe) single nucleotide variant not specified [RCV004317425] Chr3:121676985 [GRCh38]
Chr3:121395832 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1900G>A (p.Glu634Lys) single nucleotide variant not specified [RCV004311469] Chr3:121698623 [GRCh38]
Chr3:121417470 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5731T>C (p.Ser1911Pro) single nucleotide variant not specified [RCV004308582] Chr3:121694792 [GRCh38]
Chr3:121413639 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4529A>T (p.Glu1510Val) single nucleotide variant not specified [RCV004143775] Chr3:121695994 [GRCh38]
Chr3:121414841 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5363C>T (p.Thr1788Met) single nucleotide variant not specified [RCV004219943] Chr3:121695160 [GRCh38]
Chr3:121414007 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.9641C>G (p.Thr3214Arg) single nucleotide variant not specified [RCV004149491] Chr3:121664945 [GRCh38]
Chr3:121383792 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.780G>C (p.Arg260Ser) single nucleotide variant not specified [RCV004134263] Chr3:121718493 [GRCh38]
Chr3:121437340 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9641C>T (p.Thr3214Ile) single nucleotide variant not specified [RCV004194978] Chr3:121664945 [GRCh38]
Chr3:121383792 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8898A>G (p.Ile2966Met) single nucleotide variant not specified [RCV004135686] Chr3:121677426 [GRCh38]
Chr3:121396273 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8688C>A (p.Asp2896Glu) single nucleotide variant not specified [RCV004137839] Chr3:121690676 [GRCh38]
Chr3:121409523 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3643G>T (p.Asp1215Tyr) single nucleotide variant not specified [RCV004104929] Chr3:121696880 [GRCh38]
Chr3:121415727 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.68A>T (p.Asp23Val) single nucleotide variant not specified [RCV004115887] Chr3:121730904 [GRCh38]
Chr3:121449751 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.326A>G (p.Lys109Arg) single nucleotide variant not specified [RCV004214359] Chr3:121729264 [GRCh38]
Chr3:121448111 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4565C>T (p.Thr1522Ile) single nucleotide variant not specified [RCV004126575] Chr3:121695958 [GRCh38]
Chr3:121414805 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9719G>A (p.Arg3240Gln) single nucleotide variant not specified [RCV004246866] Chr3:121664556 [GRCh38]
Chr3:121383403 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1489A>G (p.Ile497Val) single nucleotide variant not specified [RCV004147751] Chr3:121702511 [GRCh38]
Chr3:121421358 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.595A>T (p.Ile199Phe) single nucleotide variant not specified [RCV004100112] Chr3:121722315 [GRCh38]
Chr3:121441162 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3279G>T (p.Glu1093Asp) single nucleotide variant not specified [RCV004178470] Chr3:121697244 [GRCh38]
Chr3:121416091 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.530A>G (p.Gln177Arg) single nucleotide variant not specified [RCV004119648] Chr3:121726914 [GRCh38]
Chr3:121445761 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2857C>G (p.Gln953Glu) single nucleotide variant not specified [RCV004211501] Chr3:121697666 [GRCh38]
Chr3:121416513 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4682A>T (p.Asp1561Val) single nucleotide variant not specified [RCV004099899] Chr3:121695841 [GRCh38]
Chr3:121414688 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4863A>C (p.Glu1621Asp) single nucleotide variant not specified [RCV004247154] Chr3:121695660 [GRCh38]
Chr3:121414507 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3209C>T (p.Thr1070Ile) single nucleotide variant not specified [RCV004199347] Chr3:121697314 [GRCh38]
Chr3:121416161 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3933G>C (p.Gln1311His) single nucleotide variant not specified [RCV004096897] Chr3:121696590 [GRCh38]
Chr3:121415437 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5137G>C (p.Asp1713His) single nucleotide variant not specified [RCV004120804] Chr3:121695386 [GRCh38]
Chr3:121414233 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5741C>T (p.Thr1914Ile) single nucleotide variant not specified [RCV004090795] Chr3:121694782 [GRCh38]
Chr3:121413629 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3457A>G (p.Ser1153Gly) single nucleotide variant not specified [RCV004151240] Chr3:121697066 [GRCh38]
Chr3:121415913 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4079G>A (p.Ser1360Asn) single nucleotide variant not specified [RCV004183801] Chr3:121696444 [GRCh38]
Chr3:121415291 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.797T>A (p.Leu266His) single nucleotide variant not specified [RCV004113084] Chr3:121718476 [GRCh38]
Chr3:121437323 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8912T>C (p.Met2971Thr) single nucleotide variant not specified [RCV004107828] Chr3:121677412 [GRCh38]
Chr3:121396259 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5205G>T (p.Arg1735Ser) single nucleotide variant not specified [RCV004101900] Chr3:121695318 [GRCh38]
Chr3:121414165 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9599G>C (p.Gly3200Ala) single nucleotide variant not specified [RCV004136612] Chr3:121664987 [GRCh38]
Chr3:121383834 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3916G>A (p.Gly1306Arg) single nucleotide variant not specified [RCV004232940] Chr3:121696607 [GRCh38]
Chr3:121415454 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4327G>A (p.Ala1443Thr) single nucleotide variant not specified [RCV004121045] Chr3:121696196 [GRCh38]
Chr3:121415043 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5510A>G (p.His1837Arg) single nucleotide variant not specified [RCV004174609] Chr3:121695013 [GRCh38]
Chr3:121413860 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.589G>A (p.Glu197Lys) single nucleotide variant not specified [RCV004079915] Chr3:121722321 [GRCh38]
Chr3:121441168 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9553C>T (p.Arg3185Trp) single nucleotide variant not specified [RCV004074118] Chr3:121667477 [GRCh38]
Chr3:121386324 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8955G>T (p.Gln2985His) single nucleotide variant not specified [RCV004176866] Chr3:121677369 [GRCh38]
Chr3:121396216 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6775A>G (p.Ile2259Val) single nucleotide variant not specified [RCV004163238] Chr3:121693748 [GRCh38]
Chr3:121412595 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2562G>C (p.Glu854Asp) single nucleotide variant not specified [RCV004168066] Chr3:121697961 [GRCh38]
Chr3:121416808 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4259T>C (p.Leu1420Pro) single nucleotide variant not specified [RCV004198157] Chr3:121696264 [GRCh38]
Chr3:121415111 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.544A>T (p.Met182Leu) single nucleotide variant not specified [RCV004165668] Chr3:121722366 [GRCh38]
Chr3:121441213 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4272A>C (p.Glu1424Asp) single nucleotide variant not specified [RCV004168546] Chr3:121696251 [GRCh38]
Chr3:121415098 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9500A>T (p.Asp3167Val) single nucleotide variant not specified [RCV004186372] Chr3:121667530 [GRCh38]
Chr3:121386377 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.429G>C (p.Glu143Asp) single nucleotide variant not specified [RCV004072355] Chr3:121727015 [GRCh38]
Chr3:121445862 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2575G>T (p.Val859Leu) single nucleotide variant not specified [RCV004181753] Chr3:121697948 [GRCh38]
Chr3:121416795 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9301C>G (p.Gln3101Glu) single nucleotide variant not specified [RCV004181754] Chr3:121669232 [GRCh38]
Chr3:121388079 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3827C>T (p.Thr1276Ile) single nucleotide variant not specified [RCV004100111] Chr3:121696696 [GRCh38]
Chr3:121415543 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5755A>G (p.Thr1919Ala) single nucleotide variant not specified [RCV004223401] Chr3:121694768 [GRCh38]
Chr3:121413615 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9286G>T (p.Ala3096Ser) single nucleotide variant not specified [RCV004175179] Chr3:121669247 [GRCh38]
Chr3:121388094 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5465C>T (p.Ser1822Leu) single nucleotide variant not specified [RCV004236214] Chr3:121695058 [GRCh38]
Chr3:121413905 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1472C>G (p.Ala491Gly) single nucleotide variant not specified [RCV004096016] Chr3:121702528 [GRCh38]
Chr3:121421375 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7403T>G (p.Val2468Gly) single nucleotide variant not specified [RCV004178967] Chr3:121691961 [GRCh38]
Chr3:121410808 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4364A>G (p.His1455Arg) single nucleotide variant not specified [RCV004167478] Chr3:121696159 [GRCh38]
Chr3:121415006 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3214T>C (p.Ser1072Pro) single nucleotide variant not specified [RCV004098371] Chr3:121697309 [GRCh38]
Chr3:121416156 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3644A>G (p.Asp1215Gly) single nucleotide variant not specified [RCV004129835] Chr3:121696879 [GRCh38]
Chr3:121415726 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1936A>C (p.Ser646Arg) single nucleotide variant not specified [RCV004088836] Chr3:121698587 [GRCh38]
Chr3:121417434 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3728T>C (p.Ile1243Thr) single nucleotide variant not specified [RCV004216584] Chr3:121696795 [GRCh38]
Chr3:121415642 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4282A>G (p.Thr1428Ala) single nucleotide variant not specified [RCV004221980] Chr3:121696241 [GRCh38]
Chr3:121415088 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2390A>G (p.Asn797Ser) single nucleotide variant not specified [RCV004222556] Chr3:121698133 [GRCh38]
Chr3:121416980 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6797A>G (p.Lys2266Arg) single nucleotide variant not specified [RCV004274661] Chr3:121692567 [GRCh38]
Chr3:121411414 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6667G>A (p.Ala2223Thr) single nucleotide variant not specified [RCV004280519] Chr3:121693856 [GRCh38]
Chr3:121412703 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1231C>T (p.Leu411Phe) single nucleotide variant not specified [RCV004263814] Chr3:121716794 [GRCh38]
Chr3:121435641 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.563T>C (p.Met188Thr) single nucleotide variant not specified [RCV004279095] Chr3:121722347 [GRCh38]
Chr3:121441194 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6224G>A (p.Arg2075His) single nucleotide variant not specified [RCV004266177] Chr3:121694299 [GRCh38]
Chr3:121413146 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7433G>A (p.Arg2478Gln) single nucleotide variant not specified [RCV004257105] Chr3:121691931 [GRCh38]
Chr3:121410778 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1711A>G (p.Met571Val) single nucleotide variant not specified [RCV004270751] Chr3:121698812 [GRCh38]
Chr3:121417659 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8299G>T (p.Asp2767Tyr) single nucleotide variant not specified [RCV004271471] Chr3:121691065 [GRCh38]
Chr3:121409912 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1237G>A (p.Asp413Asn) single nucleotide variant not specified [RCV004284903] Chr3:121716788 [GRCh38]
Chr3:121435635 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7152G>A (p.Met2384Ile) single nucleotide variant not specified [RCV004276026] Chr3:121692212 [GRCh38]
Chr3:121411059 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4716C>G (p.Ser1572Arg) single nucleotide variant not specified [RCV004266437] Chr3:121695807 [GRCh38]
Chr3:121414654 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8023G>A (p.Ala2675Thr) single nucleotide variant not specified [RCV004255193] Chr3:121691341 [GRCh38]
Chr3:121410188 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2566G>A (p.Ala856Thr) single nucleotide variant not specified [RCV004318116] Chr3:121697957 [GRCh38]
Chr3:121416804 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3863A>G (p.Asn1288Ser) single nucleotide variant not specified [RCV004248263] Chr3:121696660 [GRCh38]
Chr3:121415507 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1310A>G (p.Lys437Arg) single nucleotide variant not specified [RCV004281098] Chr3:121714955 [GRCh38]
Chr3:121433802 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1655T>C (p.Val552Ala) single nucleotide variant not specified [RCV004275677] Chr3:121698868 [GRCh38]
Chr3:121417715 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2792T>C (p.Val931Ala) single nucleotide variant not specified [RCV004248641] Chr3:121697731 [GRCh38]
Chr3:121416578 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2251A>G (p.Arg751Gly) single nucleotide variant not specified [RCV004269018] Chr3:121698272 [GRCh38]
Chr3:121417119 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7859C>T (p.Thr2620Ile) single nucleotide variant not specified [RCV004255492] Chr3:121691505 [GRCh38]
Chr3:121410352 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6688G>C (p.Glu2230Gln) single nucleotide variant not specified [RCV004248409] Chr3:121693835 [GRCh38]
Chr3:121412682 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7400T>G (p.Phe2467Cys) single nucleotide variant not specified [RCV004297702] Chr3:121691964 [GRCh38]
Chr3:121410811 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3017A>G (p.Asn1006Ser) single nucleotide variant not specified [RCV004328765] Chr3:121697506 [GRCh38]
Chr3:121416353 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2566G>T (p.Ala856Ser) single nucleotide variant not specified [RCV004330143] Chr3:121697957 [GRCh38]
Chr3:121416804 [GRCh37]
Chr3:3q13.33
uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2
pathogenic
NM_001366282.2(GOLGB1):c.532A>T (p.Ser178Cys) single nucleotide variant not specified [RCV004337677] Chr3:121722378 [GRCh38]
Chr3:121441225 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1778C>G (p.Ala593Gly) single nucleotide variant not specified [RCV004343731] Chr3:121698745 [GRCh38]
Chr3:121417592 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.3427G>A (p.Val1143Ile) single nucleotide variant not specified [RCV004342215] Chr3:121697096 [GRCh38]
Chr3:121415943 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5140A>G (p.Thr1714Ala) single nucleotide variant not specified [RCV004361418] Chr3:121695383 [GRCh38]
Chr3:121414230 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.533G>C (p.Ser178Thr) single nucleotide variant not specified [RCV004360333] Chr3:121722377 [GRCh38]
Chr3:121441224 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9338A>G (p.Asp3113Gly) single nucleotide variant not specified [RCV004350035] Chr3:121668142 [GRCh38]
Chr3:121386989 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4286A>G (p.Lys1429Arg) single nucleotide variant not specified [RCV004350293] Chr3:121696237 [GRCh38]
Chr3:121415084 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3767C>T (p.Thr1256Ile) single nucleotide variant not specified [RCV004353866] Chr3:121696756 [GRCh38]
Chr3:121415603 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.77T>C (p.Met26Thr) single nucleotide variant not specified [RCV004356266] Chr3:121730895 [GRCh38]
Chr3:121449742 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5423T>G (p.Leu1808Arg) single nucleotide variant not specified [RCV004352314] Chr3:121695100 [GRCh38]
Chr3:121413947 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2257C>G (p.Gln753Glu) single nucleotide variant not specified [RCV004356873] Chr3:121698266 [GRCh38]
Chr3:121417113 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1690T>G (p.Leu564Val) single nucleotide variant not specified [RCV004364978] Chr3:121698833 [GRCh38]
Chr3:121417680 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6009G>C (p.Gln2003His) single nucleotide variant not specified [RCV004343993] Chr3:121694514 [GRCh38]
Chr3:121413361 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7583A>G (p.Asn2528Ser) single nucleotide variant not specified [RCV004348877] Chr3:121691781 [GRCh38]
Chr3:121410628 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5777A>T (p.Asp1926Val) single nucleotide variant not specified [RCV004361832] Chr3:121694746 [GRCh38]
Chr3:121413593 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3421G>A (p.Asp1141Asn) single nucleotide variant not specified [RCV004334589] Chr3:121697102 [GRCh38]
Chr3:121415949 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.961G>A (p.Glu321Lys) single nucleotide variant not specified [RCV004359555] Chr3:121717064 [GRCh38]
Chr3:121435911 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4635G>A (p.Arg1545=) single nucleotide variant not provided [RCV003427303] Chr3:121695888 [GRCh38]
Chr3:121414735 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.8379C>T (p.Thr2793=) single nucleotide variant not provided [RCV003427302] Chr3:121690985 [GRCh38]
Chr3:121409832 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.2925A>T (p.Gly975=) single nucleotide variant not provided [RCV003427304] Chr3:121697598 [GRCh38]
Chr3:121416445 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.2712G>A (p.Lys904=) single nucleotide variant not provided [RCV003427305] Chr3:121697811 [GRCh38]
Chr3:121416658 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.3899C>G (p.Ala1300Gly) single nucleotide variant not specified [RCV004395781] Chr3:121696624 [GRCh38]
Chr3:121415471 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6988A>G (p.Ser2330Gly) single nucleotide variant not specified [RCV004395795] Chr3:121692376 [GRCh38]
Chr3:121411223 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7097C>T (p.Thr2366Ile) single nucleotide variant not specified [RCV004395797] Chr3:121692267 [GRCh38]
Chr3:121411114 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2023A>G (p.Lys675Glu) single nucleotide variant not specified [RCV004395772] Chr3:121698500 [GRCh38]
Chr3:121417347 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6485A>T (p.Glu2162Val) single nucleotide variant not specified [RCV004395790] Chr3:121694038 [GRCh38]
Chr3:121412885 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1660G>C (p.Glu554Gln) single nucleotide variant not specified [RCV004395769] Chr3:121698863 [GRCh38]
Chr3:121417710 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2819T>C (p.Leu940Pro) single nucleotide variant not specified [RCV004395778] Chr3:121697704 [GRCh38]
Chr3:121416551 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3135T>A (p.Asp1045Glu) single nucleotide variant not specified [RCV004395780] Chr3:121697388 [GRCh38]
Chr3:121416235 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3919A>C (p.Thr1307Pro) single nucleotide variant not specified [RCV004395783] Chr3:121696604 [GRCh38]
Chr3:121415451 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7108G>A (p.Ala2370Thr) single nucleotide variant not specified [RCV004395798] Chr3:121692256 [GRCh38]
Chr3:121411103 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7A>G (p.Ser3Gly) single nucleotide variant not specified [RCV004395805] Chr3:121730965 [GRCh38]
Chr3:121449812 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8350A>G (p.Arg2784Gly) single nucleotide variant not specified [RCV004395809] Chr3:121691014 [GRCh38]
Chr3:121409861 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9548T>A (p.Ile3183Asn) single nucleotide variant not specified [RCV004395812] Chr3:121667482 [GRCh38]
Chr3:121386329 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9739A>G (p.Ile3247Val) single nucleotide variant not specified [RCV004395815] Chr3:121664536 [GRCh38]
Chr3:121383383 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2129A>C (p.Glu710Ala) single nucleotide variant not specified [RCV004395773] Chr3:121698394 [GRCh38]
Chr3:121417241 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2821A>G (p.Asn941Asp) single nucleotide variant not specified [RCV004395779] Chr3:121697702 [GRCh38]
Chr3:121416549 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4166T>A (p.Leu1389Gln) single nucleotide variant not specified [RCV004395784] Chr3:121696357 [GRCh38]
Chr3:121415204 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6621C>G (p.Asp2207Glu) single nucleotide variant not specified [RCV004395791] Chr3:121693902 [GRCh38]
Chr3:121412749 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7072A>G (p.Lys2358Glu) single nucleotide variant not specified [RCV004395796] Chr3:121692292 [GRCh38]
Chr3:121411139 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7907A>G (p.His2636Arg) single nucleotide variant not specified [RCV004395803] Chr3:121691457 [GRCh38]
Chr3:121410304 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1696G>A (p.Val566Ile) single nucleotide variant not specified [RCV004395770] Chr3:121698827 [GRCh38]
Chr3:121417674 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6668C>G (p.Ala2223Gly) single nucleotide variant not specified [RCV004395792] Chr3:121693855 [GRCh38]
Chr3:121412702 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8309T>C (p.Leu2770Pro) single nucleotide variant not specified [RCV004395808] Chr3:121691055 [GRCh38]
Chr3:121409902 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9463G>A (p.Val3155Met) single nucleotide variant not specified [RCV004395811] Chr3:121667567 [GRCh38]
Chr3:121386414 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.9626T>G (p.Leu3209Arg) single nucleotide variant not specified [RCV004395813] Chr3:121664960 [GRCh38]
Chr3:121383807 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2306C>A (p.Ala769Asp) single nucleotide variant not specified [RCV004395775] Chr3:121698217 [GRCh38]
Chr3:121417064 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.706C>T (p.Arg236Cys) single nucleotide variant not specified [RCV004395794] Chr3:121719711 [GRCh38]
Chr3:121438558 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.734T>C (p.Leu245Ser) single nucleotide variant not specified [RCV004395800] Chr3:121719683 [GRCh38]
Chr3:121438530 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.745G>A (p.Ala249Thr) single nucleotide variant not specified [RCV004395801] Chr3:121719672 [GRCh38]
Chr3:121438519 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8032G>C (p.Val2678Leu) single nucleotide variant not specified [RCV004395806] Chr3:121691332 [GRCh38]
Chr3:121410179 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3899C>T (p.Ala1300Val) single nucleotide variant not specified [RCV004395782] Chr3:121696624 [GRCh38]
Chr3:121415471 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4316A>G (p.Asp1439Gly) single nucleotide variant not specified [RCV004395785] Chr3:121696207 [GRCh38]
Chr3:121415054 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4399T>C (p.Cys1467Arg) single nucleotide variant not specified [RCV004395786] Chr3:121696124 [GRCh38]
Chr3:121414971 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.475C>A (p.Leu159Ile) single nucleotide variant not specified [RCV004395787] Chr3:121726969 [GRCh38]
Chr3:121445816 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6870A>C (p.Glu2290Asp) single nucleotide variant not specified [RCV004395793] Chr3:121692494 [GRCh38]
Chr3:121411341 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7184G>T (p.Gly2395Val) single nucleotide variant not specified [RCV004395799] Chr3:121692180 [GRCh38]
Chr3:121411027 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7775G>A (p.Arg2592Gln) single nucleotide variant not specified [RCV004395802] Chr3:121691589 [GRCh38]
Chr3:121410436 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.808G>A (p.Glu270Lys) single nucleotide variant not specified [RCV004395804] Chr3:121718465 [GRCh38]
Chr3:121437312 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8212A>G (p.Ile2738Val) single nucleotide variant not specified [RCV004395807] Chr3:121691152 [GRCh38]
Chr3:121409999 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9239G>A (p.Ser3080Asn) single nucleotide variant not specified [RCV004395810] Chr3:121669294 [GRCh38]
Chr3:121388141 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.9712C>T (p.Arg3238Trp) single nucleotide variant not specified [RCV004395814] Chr3:121664563 [GRCh38]
Chr3:121383410 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1045C>A (p.His349Asn) single nucleotide variant not specified [RCV004395766] Chr3:121716980 [GRCh38]
Chr3:121435827 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1161G>T (p.Leu387Phe) single nucleotide variant not specified [RCV004395767] Chr3:121716864 [GRCh38]
Chr3:121435711 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1293G>C (p.Gln431His) single nucleotide variant not specified [RCV004395768] Chr3:121714972 [GRCh38]
Chr3:121433819 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2217C>G (p.Asn739Lys) single nucleotide variant not specified [RCV004395774] Chr3:121698306 [GRCh38]
Chr3:121417153 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2635G>A (p.Glu879Lys) single nucleotide variant not specified [RCV004395776] Chr3:121697888 [GRCh38]
Chr3:121416735 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2740A>C (p.Ser914Arg) single nucleotide variant not specified [RCV004395777] Chr3:121697783 [GRCh38]
Chr3:121416630 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6788A>T (p.Glu2263Val) single nucleotide variant not specified [RCV004630033] Chr3:121692576 [GRCh38]
Chr3:121411423 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6173A>G (p.Gln2058Arg) single nucleotide variant not specified [RCV004630034] Chr3:121694350 [GRCh38]
Chr3:121413197 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5312A>G (p.Asn1771Ser) single nucleotide variant not specified [RCV004630035] Chr3:121695211 [GRCh38]
Chr3:121414058 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6587C>G (p.Thr2196Ser) single nucleotide variant not specified [RCV004630036] Chr3:121693936 [GRCh38]
Chr3:121412783 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.904C>A (p.Gln302Lys) single nucleotide variant not specified [RCV004630037] Chr3:121717121 [GRCh38]
Chr3:121435968 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3494C>T (p.Pro1165Leu) single nucleotide variant not specified [RCV004630038] Chr3:121697029 [GRCh38]
Chr3:121415876 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3809A>C (p.Glu1270Ala) single nucleotide variant not specified [RCV004630039] Chr3:121696714 [GRCh38]
Chr3:121415561 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6118A>G (p.Ile2040Val) single nucleotide variant not specified [RCV004630057] Chr3:121694405 [GRCh38]
Chr3:121413252 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.647A>T (p.Gln216Leu) single nucleotide variant not specified [RCV004623951] Chr3:121722263 [GRCh38]
Chr3:121441110 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2807T>A (p.Leu936His) single nucleotide variant not specified [RCV004630029] Chr3:121697716 [GRCh38]
Chr3:121416563 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1526T>C (p.Leu509Pro) single nucleotide variant not specified [RCV004630030] Chr3:121699879 [GRCh38]
Chr3:121418726 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.674G>A (p.Arg225Gln) single nucleotide variant not specified [RCV004630040] Chr3:121719743 [GRCh38]
Chr3:121438590 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.262G>T (p.Ala88Ser) single nucleotide variant not specified [RCV004630041] Chr3:121729328 [GRCh38]
Chr3:121448175 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.467A>G (p.Lys156Arg) single nucleotide variant not specified [RCV004630043] Chr3:121726977 [GRCh38]
Chr3:121445824 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2005A>G (p.Thr669Ala) single nucleotide variant not specified [RCV004630044] Chr3:121698518 [GRCh38]
Chr3:121417365 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3303G>C (p.Gln1101His) single nucleotide variant not specified [RCV004630045] Chr3:121697220 [GRCh38]
Chr3:121416067 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4271A>C (p.Glu1424Ala) single nucleotide variant not specified [RCV004630046] Chr3:121696252 [GRCh38]
Chr3:121415099 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3875A>G (p.Asp1292Gly) single nucleotide variant not specified [RCV004630047] Chr3:121696648 [GRCh38]
Chr3:121415495 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.1352A>G (p.His451Arg) single nucleotide variant not specified [RCV004630048] Chr3:121714913 [GRCh38]
Chr3:121433760 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5534A>C (p.Gln1845Pro) single nucleotide variant not specified [RCV004630049] Chr3:121694989 [GRCh38]
Chr3:121413836 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.5126A>C (p.His1709Pro) single nucleotide variant not specified [RCV004630050] Chr3:121695397 [GRCh38]
Chr3:121414244 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7234G>T (p.Asp2412Tyr) single nucleotide variant not specified [RCV004630051] Chr3:121692130 [GRCh38]
Chr3:121410977 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.8081A>G (p.His2694Arg) single nucleotide variant not specified [RCV004630052] Chr3:121691283 [GRCh38]
Chr3:121410130 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.4418C>T (p.Pro1473Leu) single nucleotide variant not specified [RCV004630053] Chr3:121696105 [GRCh38]
Chr3:121414952 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.3574C>G (p.Arg1192Gly) single nucleotide variant not specified [RCV004630054] Chr3:121696949 [GRCh38]
Chr3:121415796 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.6301G>T (p.Ala2101Ser) single nucleotide variant not specified [RCV004630055] Chr3:121694222 [GRCh38]
Chr3:121413069 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.436A>G (p.Ile146Val) single nucleotide variant not specified [RCV004623945] Chr3:121727008 [GRCh38]
Chr3:121445855 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.9058G>A (p.Ala3020Thr) single nucleotide variant not specified [RCV004623946] Chr3:121677012 [GRCh38]
Chr3:121395859 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.2222G>A (p.Ser741Asn) single nucleotide variant not specified [RCV004623947] Chr3:121698301 [GRCh38]
Chr3:121417148 [GRCh37]
Chr3:3q13.33
likely benign
NM_001366282.2(GOLGB1):c.6167A>C (p.Glu2056Ala) single nucleotide variant not specified [RCV004623948] Chr3:121694356 [GRCh38]
Chr3:121413203 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.7961C>G (p.Ser2654Cys) single nucleotide variant not specified [RCV004623949] Chr3:121691403 [GRCh38]
Chr3:121410250 [GRCh37]
Chr3:3q13.33
uncertain significance
NM_001366282.2(GOLGB1):c.385G>A (p.Glu129Lys) single nucleotide variant not specified [RCV004623950] Chr3:121729205 [GRCh38]
Chr3:121448052 [GRCh37]
Chr3:3q13.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5840
Count of miRNA genes:1320
Interacting mature miRNAs:1718
Transcripts:ENST00000340645, ENST00000393667, ENST00000472475, ENST00000472829, ENST00000482512, ENST00000489400, ENST00000491690, ENST00000494517
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407182997GWAS831973_Hcalcium measurement QTL GWAS831973 (human)1e-16calcium measurementblood calcium level (CMO:0000502)3121740742121740743Human
406984353GWAS633329_Hmean corpuscular hemoglobin concentration QTL GWAS633329 (human)9e-11mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)3121696763121696764Human
407308371GWAS957347_Hblood phosphate measurement QTL GWAS957347 (human)4e-16blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)3121696867121696868Human
407185395GWAS834371_Hcalcium measurement QTL GWAS834371 (human)7e-46calcium measurementblood calcium level (CMO:0000502)3121696867121696868Human
407409407GWAS1058383_Hdepressive symptom measurement, response to antidepressant QTL GWAS1058383 (human)0.000003depressive symptom measurement, response to antidepressant3121671594121671595Human
407404900GWAS1053876_Hcalcium measurement QTL GWAS1053876 (human)1e-09calcium measurementblood calcium level (CMO:0000502)3121728053121728054Human
407030862GWAS679838_Hplatelet count QTL GWAS679838 (human)6e-10platelet quantity (VT:0003179)platelet count (CMO:0000029)3121733492121733493Human
407183001GWAS831977_Hcalcium measurement QTL GWAS831977 (human)3e-15calcium measurementblood calcium level (CMO:0000502)3121733785121733786Human
407036447GWAS685423_Hmean reticulocyte volume QTL GWAS685423 (human)4e-12reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)3121675860121675861Human
407289337GWAS938313_Hbody height QTL GWAS938313 (human)3e-55body height (VT:0001253)body height (CMO:0000106)3121671771121671772Human
406987517GWAS636493_Hmean corpuscular volume QTL GWAS636493 (human)4e-12mean corpuscular volumemean corpuscular volume (CMO:0000038)3121696763121696764Human

Markers in Region
SHGC-37473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,414,885 - 121,415,034UniSTSGRCh37
Build 363122,897,575 - 122,897,724RGDNCBI36
Celera3119,824,926 - 119,825,075RGD
Cytogenetic Map3q13UniSTS
HuRef3118,789,011 - 118,789,160UniSTS
Stanford-G3 RH Map35455.0UniSTS
GeneMap99-G3 RH Map35925.0UniSTS
RH69909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,383,019 - 121,383,103UniSTSGRCh37
Build 363122,865,709 - 122,865,793RGDNCBI36
Celera3119,792,983 - 119,793,067RGD
Cytogenetic Map3q13UniSTS
HuRef3118,757,148 - 118,757,232UniSTS
GeneMap99-GB4 RH Map3422.31UniSTS
NCBI RH Map3929.8UniSTS
RH91267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,414,648 - 121,414,787UniSTSGRCh37
Build 363122,897,338 - 122,897,477RGDNCBI36
Celera3119,824,689 - 119,824,828RGD
Cytogenetic Map3q13UniSTS
HuRef3118,788,774 - 118,788,913UniSTS
GeneMap99-GB4 RH Map3422.57UniSTS
G59904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,149 - 121,382,279UniSTSGRCh37
Build 363122,864,839 - 122,864,969RGDNCBI36
Celera3119,792,113 - 119,792,243RGD
Cytogenetic Map3q13UniSTS
HuRef3118,756,278 - 118,756,408UniSTS
TNG Radiation Hybrid Map369071.0UniSTS
RH118950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,383,345 - 121,383,638UniSTSGRCh37
Build 363122,866,035 - 122,866,328RGDNCBI36
Celera3119,793,309 - 119,793,602RGD
Cytogenetic Map3q13UniSTS
HuRef3118,757,474 - 118,757,767UniSTS
TNG Radiation Hybrid Map369064.0UniSTS
D10Bir6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372159,243,591 - 159,244,059UniSTSGRCh37
Build 362158,951,837 - 158,952,305RGDNCBI36
Celera2152,860,337 - 152,860,799RGD
HuRef3118,814,463 - 118,814,805UniSTS
HuRef2151,131,846 - 151,132,308UniSTS
WIAF-2081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,139 - 121,382,304UniSTSGRCh37
Build 363122,864,829 - 122,864,994RGDNCBI36
Celera3119,792,103 - 119,792,268RGD
Cytogenetic Map3q13UniSTS
HuRef3118,756,268 - 118,756,433UniSTS
GeneMap99-GB4 RH Map3422.27UniSTS
NCBI RH Map3929.8UniSTS
PMC311069P7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,140 - 121,382,241UniSTSGRCh37
Build 363122,864,830 - 122,864,931RGDNCBI36
Celera3119,792,104 - 119,792,205RGD
Cytogenetic Map3q13UniSTS
HuRef3118,756,269 - 118,756,370UniSTS
STS-X75304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,383,112 - 121,383,246UniSTSGRCh37
Build 363122,865,802 - 122,865,936RGDNCBI36
Celera3119,793,076 - 119,793,210RGD
Cytogenetic Map3q13UniSTS
HuRef3118,757,241 - 118,757,375UniSTS
GeneMap99-GB4 RH Map3422.93UniSTS
NCBI RH Map3929.8UniSTS
IB1423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,132 - 121,382,389UniSTSGRCh37
Build 363122,864,822 - 122,865,079RGDNCBI36
Celera3119,792,096 - 119,792,353RGD
Cytogenetic Map3q13UniSTS
HuRef3118,756,261 - 118,756,518UniSTS
Whitehead-RH Map3532.7UniSTS
WI-22003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,991 - 121,383,253UniSTSGRCh37
Build 363122,865,681 - 122,865,943RGDNCBI36
Celera3119,792,955 - 119,793,217RGD
Cytogenetic Map3q13UniSTS
HuRef3118,757,120 - 118,757,382UniSTS
GeneMap99-GB4 RH Map3421.68UniSTS
Whitehead-RH Map3532.8UniSTS
G19747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,118 - 121,382,315UniSTSGRCh37
Build 363122,864,808 - 122,865,005RGDNCBI36
Celera3119,792,082 - 119,792,279RGD
Cytogenetic Map3q13UniSTS
HuRef3118,756,247 - 118,756,444UniSTS
A001X20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,382,118 - 121,382,315UniSTSGRCh37
Build 363122,864,808 - 122,865,005RGDNCBI36
Celera3119,792,082 - 119,792,279RGD
Cytogenetic Map3q13UniSTS
HuRef3118,756,247 - 118,756,444UniSTS
GeneMap99-GB4 RH Map3423.97UniSTS
NCBI RH Map3929.8UniSTS
D3S3940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,383,111 - 121,383,211UniSTSGRCh37
Build 363122,865,801 - 122,865,901RGDNCBI36
Celera3119,793,075 - 119,793,175RGD
Cytogenetic Map3q13UniSTS
HuRef3118,757,240 - 118,757,340UniSTS
GeneMap99-GB4 RH Map3422.0UniSTS
Whitehead-RH Map3532.7UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3929.8UniSTS
EST13C8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373121,415,149 - 121,415,348UniSTSGRCh37
Build 363122,897,839 - 122,898,038RGDNCBI36
Celera3119,825,190 - 119,825,389RGD
HuRef3118,789,275 - 118,789,474UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2251 4971 1726 2351 6 624 1951 465 2269 7303 6470 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001389631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA127633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB371588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB593126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC119736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF061034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM475510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP320001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X75304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340645   ⟹   ENSP00000341848
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,199 - 121,749,767 (-)Ensembl
Ensembl Acc Id: ENST00000393667   ⟹   ENSP00000377275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,203 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000472475   ⟹   ENSP00000417695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,749,172 (-)Ensembl
Ensembl Acc Id: ENST00000472829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,727,319 - 121,730,474 (-)Ensembl
Ensembl Acc Id: ENST00000482512   ⟹   ENSP00000419519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,101 - 121,749,746 (-)Ensembl
Ensembl Acc Id: ENST00000489400   ⟹   ENSP00000417767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,730,973 (-)Ensembl
Ensembl Acc Id: ENST00000491690   ⟹   ENSP00000420027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,390 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000494517   ⟹   ENSP00000418231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,136 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000614479   ⟹   ENSP00000484083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,201 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000694956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,201 - 121,667,373 (-)Ensembl
Ensembl Acc Id: ENST00000694957   ⟹   ENSP00000511617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,203 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000694958   ⟹   ENSP00000511618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,749,866 (-)Ensembl
Ensembl Acc Id: ENST00000694959   ⟹   ENSP00000511619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,726,913 - 121,749,676 (-)Ensembl
Ensembl Acc Id: ENST00000694960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,727,342 - 121,749,767 (-)Ensembl
Ensembl Acc Id: ENST00000694973   ⟹   ENSP00000511621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,201 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000694974   ⟹   ENSP00000511622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,379 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000694975   ⟹   ENSP00000511623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,697,691 - 121,749,730 (-)Ensembl
Ensembl Acc Id: ENST00000694976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,698,884 - 121,700,118 (-)Ensembl
Ensembl Acc Id: ENST00000694977   ⟹   ENSP00000511624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,101 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000694979   ⟹   ENSP00000511626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,344 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000694980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,402 - 121,668,660 (-)Ensembl
Ensembl Acc Id: ENST00000694981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,421 - 121,690,730 (-)Ensembl
Ensembl Acc Id: ENST00000694982   ⟹   ENSP00000511627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,147 - 121,749,710 (-)Ensembl
Ensembl Acc Id: ENST00000694983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,221 - 121,668,698 (-)Ensembl
Ensembl Acc Id: ENST00000694984   ⟹   ENSP00000511628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,698,785 - 121,749,740 (-)Ensembl
Ensembl Acc Id: ENST00000694985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,701,753 - 121,749,684 (-)Ensembl
Ensembl Acc Id: ENST00000695004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,234 - 121,675,037 (-)Ensembl
Ensembl Acc Id: ENST00000695005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,234 - 121,682,919 (-)Ensembl
Ensembl Acc Id: ENST00000695006   ⟹   ENSP00000511639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,234 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,207 - 121,683,044 (-)Ensembl
Ensembl Acc Id: ENST00000695008   ⟹   ENSP00000511640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,749,461 (-)Ensembl
Ensembl Acc Id: ENST00000695009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,695,596 - 121,703,013 (-)Ensembl
Ensembl Acc Id: ENST00000695010   ⟹   ENSP00000511641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,697,563 - 121,749,677 (-)Ensembl
Ensembl Acc Id: ENST00000695011   ⟹   ENSP00000511642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,697,900 - 121,749,720 (-)Ensembl
Ensembl Acc Id: ENST00000695014   ⟹   ENSP00000511645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,234 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695015   ⟹   ENSP00000511646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,254 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695016   ⟹   ENSP00000511647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,192 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000695017   ⟹   ENSP00000511648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,749,688 (-)Ensembl
Ensembl Acc Id: ENST00000695018   ⟹   ENSP00000511649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000695019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,697,456 - 121,719,174 (-)Ensembl
Ensembl Acc Id: ENST00000695020   ⟹   ENSP00000511650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,697,968 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000695021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,698,628 - 121,719,163 (-)Ensembl
Ensembl Acc Id: ENST00000695022   ⟹   ENSP00000511651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,719,179 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000695035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,204 - 121,683,313 (-)Ensembl
Ensembl Acc Id: ENST00000695036   ⟹   ENSP00000511657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,109 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695037   ⟹   ENSP00000511658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,669,212 - 121,730,973 (-)Ensembl
Ensembl Acc Id: ENST00000695038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,681,835 - 121,683,175 (-)Ensembl
Ensembl Acc Id: ENST00000695039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,690,424 - 121,694,426 (-)Ensembl
Ensembl Acc Id: ENST00000695040   ⟹   ENSP00000511659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,690,670 - 121,749,741 (-)Ensembl
Ensembl Acc Id: ENST00000695041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,712,201 - 121,719,523 (-)Ensembl
Ensembl Acc Id: ENST00000695106   ⟹   ENSP00000511697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,681,687 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695107   ⟹   ENSP00000511698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,664,098 - 121,749,747 (-)Ensembl
Ensembl Acc Id: ENST00000695108   ⟹   ENSP00000511699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,693,741 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695109   ⟹   ENSP00000511700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,714,861 - 121,719,750 (-)Ensembl
Ensembl Acc Id: ENST00000695110   ⟹   ENSP00000511701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,726,913 - 121,749,966 (-)Ensembl
Ensembl Acc Id: ENST00000695118   ⟹   ENSP00000511707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,663,201 - 121,668,158 (-)Ensembl
Ensembl Acc Id: ENST00000695119   ⟹   ENSP00000511708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,676,893 - 121,718,501 (-)Ensembl
Ensembl Acc Id: ENST00000695120   ⟹   ENSP00000511709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3121,676,893 - 121,718,501 (-)Ensembl
RefSeq Acc Id: NM_001256486   ⟹   NP_001243415
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
GRCh373121,382,046 - 121,468,662 (-)NCBI
HuRef3118,756,175 - 118,842,594 (-)NCBI
CHM1_13121,345,590 - 121,432,070 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256487   ⟹   NP_001243416
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
GRCh373121,382,046 - 121,468,662 (-)NCBI
HuRef3118,756,175 - 118,842,594 (-)NCBI
CHM1_13121,345,590 - 121,432,070 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256488   ⟹   NP_001243417
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
GRCh373121,382,046 - 121,468,662 (-)NCBI
HuRef3118,756,175 - 118,842,594 (-)NCBI
CHM1_13121,345,590 - 121,432,070 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366282   ⟹   NP_001353211
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366283   ⟹   NP_001353212
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366284   ⟹   NP_001353213
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001389631   ⟹   NP_001376560
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004487   ⟹   NP_004478
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
GRCh373121,382,046 - 121,468,662 (-)NCBI
Build 363122,864,738 - 122,951,292 (-)NCBI Archive
HuRef3118,756,175 - 118,842,594 (-)NCBI
CHM1_13121,345,590 - 121,432,070 (-)NCBI
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247371   ⟹   XP_005247428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
GRCh373121,382,046 - 121,468,662 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247373   ⟹   XP_005247430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
GRCh373121,382,046 - 121,468,662 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713588   ⟹   XP_006713651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713589   ⟹   XP_006713652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713591   ⟹   XP_006713654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512699   ⟹   XP_011511001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,966 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006189   ⟹   XP_016861678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006190   ⟹   XP_016861679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006191   ⟹   XP_016861680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006195   ⟹   XP_016861684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,719,632 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447987   ⟹   XP_047303943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
RefSeq Acc Id: XM_047447988   ⟹   XP_047303944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,966 (-)NCBI
RefSeq Acc Id: XM_047447989   ⟹   XP_047303945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,966 (-)NCBI
RefSeq Acc Id: XM_047447990   ⟹   XP_047303946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
RefSeq Acc Id: XM_047447991   ⟹   XP_047303947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,730,952 (-)NCBI
RefSeq Acc Id: XM_047447992   ⟹   XP_047303948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,966 (-)NCBI
RefSeq Acc Id: XM_047447993   ⟹   XP_047303949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
RefSeq Acc Id: XM_047447994   ⟹   XP_047303950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,966 (-)NCBI
RefSeq Acc Id: XM_047447995   ⟹   XP_047303951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,663,201 - 121,749,741 (-)NCBI
RefSeq Acc Id: XM_047447996   ⟹   XP_047303952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,681,822 - 121,749,741 (-)NCBI
RefSeq Acc Id: XM_054346221   ⟹   XP_054202196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346222   ⟹   XP_054202197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346223   ⟹   XP_054202198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
RefSeq Acc Id: XM_054346224   ⟹   XP_054202199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346225   ⟹   XP_054202200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,672 (-)NCBI
RefSeq Acc Id: XM_054346226   ⟹   XP_054202201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346227   ⟹   XP_054202202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
RefSeq Acc Id: XM_054346228   ⟹   XP_054202203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,672 (-)NCBI
RefSeq Acc Id: XM_054346229   ⟹   XP_054202204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346230   ⟹   XP_054202205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
RefSeq Acc Id: XM_054346231   ⟹   XP_054202206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,450,848 (-)NCBI
RefSeq Acc Id: XM_054346232   ⟹   XP_054202207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
RefSeq Acc Id: XM_054346233   ⟹   XP_054202208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,672 (-)NCBI
RefSeq Acc Id: XM_054346234   ⟹   XP_054202209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346235   ⟹   XP_054202210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
RefSeq Acc Id: XM_054346236   ⟹   XP_054202211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,672 (-)NCBI
RefSeq Acc Id: XM_054346237   ⟹   XP_054202212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,471,671 (-)NCBI
RefSeq Acc Id: XM_054346238   ⟹   XP_054202213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,469,631 (-)NCBI
RefSeq Acc Id: XM_054346239   ⟹   XP_054202214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,383,093 - 124,439,527 (-)NCBI
RefSeq Acc Id: XM_054346240   ⟹   XP_054202215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03124,401,714 - 124,469,631 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001243415 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243417 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353211 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353212 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353213 (Get FASTA)   NCBI Sequence Viewer  
  NP_001376560 (Get FASTA)   NCBI Sequence Viewer  
  NP_004478 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247428 (Get FASTA)   NCBI Sequence Viewer  
  XP_005247430 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713651 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713652 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713654 (Get FASTA)   NCBI Sequence Viewer  
  XP_011511001 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861678 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861679 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861680 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861684 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303943 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303944 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303945 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303946 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303947 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303949 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303952 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202196 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202197 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202198 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202199 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202200 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202201 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202202 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202203 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202204 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202205 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202206 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202207 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202208 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202209 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202210 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202211 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202212 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202213 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202215 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAA05025 (Get FASTA)   NCBI Sequence Viewer  
  BAG48317 (Get FASTA)   NCBI Sequence Viewer  
  BAG59460 (Get FASTA)   NCBI Sequence Viewer  
  BAG61079 (Get FASTA)   NCBI Sequence Viewer  
  BAG62161 (Get FASTA)   NCBI Sequence Viewer  
  BAJ84066 (Get FASTA)   NCBI Sequence Viewer  
  CAA53052 (Get FASTA)   NCBI Sequence Viewer  
  EAW79502 (Get FASTA)   NCBI Sequence Viewer  
  EAW79503 (Get FASTA)   NCBI Sequence Viewer  
  EAW79504 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341848
  ENSP00000341848.5
  ENSP00000377275
  ENSP00000377275.3
  ENSP00000417695.2
  ENSP00000417767
  ENSP00000417767.2
  ENSP00000418231
  ENSP00000418231.2
  ENSP00000419519.1
  ENSP00000420027.2
  ENSP00000484083
  ENSP00000484083.2
  ENSP00000511617.1
  ENSP00000511618
  ENSP00000511618.1
  ENSP00000511619.1
  ENSP00000511621
  ENSP00000511621.1
  ENSP00000511622
  ENSP00000511622.1
  ENSP00000511623.1
  ENSP00000511624.1
  ENSP00000511626.1
  ENSP00000511627.1
  ENSP00000511628.1
  ENSP00000511639.1
  ENSP00000511640
  ENSP00000511640.1
  ENSP00000511641.1
  ENSP00000511642.1
  ENSP00000511645.1
  ENSP00000511646.1
  ENSP00000511647.1
  ENSP00000511648
  ENSP00000511648.1
  ENSP00000511649.1
  ENSP00000511650.1
  ENSP00000511651.1
  ENSP00000511657.1
  ENSP00000511658.1
  ENSP00000511659.1
  ENSP00000511697.1
  ENSP00000511698.1
  ENSP00000511700.1
  ENSP00000511701.1
  ENSP00000511707.1
  ENSP00000511708.1
  ENSP00000511709.1
GenBank Protein Q14789 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_004478   ⟸   NM_004487
- Peptide Label: isoform 2
- UniProtKB: F1T0J2 (UniProtKB/Swiss-Prot),   E7EP74 (UniProtKB/Swiss-Prot),   D3DN92 (UniProtKB/Swiss-Prot),   B2ZZ91 (UniProtKB/Swiss-Prot),   Q14398 (UniProtKB/Swiss-Prot),   Q14789 (UniProtKB/Swiss-Prot),   C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243415   ⟸   NM_001256486
- Peptide Label: isoform 1
- UniProtKB: C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243417   ⟸   NM_001256488
- Peptide Label: isoform 4
- UniProtKB: A0A8Q3WKA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243416   ⟸   NM_001256487
- Peptide Label: isoform 3
- UniProtKB: C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247430   ⟸   XM_005247373
- Peptide Label: isoform X7
- UniProtKB: A0A8Q3WKA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247428   ⟸   XM_005247371
- Peptide Label: isoform X1
- UniProtKB: C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713654   ⟸   XM_006713591
- Peptide Label: isoform X8
- UniProtKB: H0Y867 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713652   ⟸   XM_006713589
- Peptide Label: isoform X4
- UniProtKB: A0A8Q3SHH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713651   ⟸   XM_006713588
- Peptide Label: isoform X2
- UniProtKB: C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511001   ⟸   XM_011512699
- Peptide Label: isoform X1
- UniProtKB: C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861679   ⟸   XM_017006190
- Peptide Label: isoform X4
- UniProtKB: A0A8Q3SHH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861680   ⟸   XM_017006191
- Peptide Label: isoform X7
- UniProtKB: A0A8Q3WKA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861678   ⟸   XM_017006189
- Peptide Label: isoform X2
- UniProtKB: C9J8Q0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861684   ⟸   XM_017006195
- Peptide Label: isoform X10
- UniProtKB: A0A8Q3SHP0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353212   ⟸   NM_001366283
- Peptide Label: isoform 6
- UniProtKB: E7EU81 (UniProtKB/TrEMBL),   A0A8Q3WKA7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353211   ⟸   NM_001366282
- Peptide Label: isoform 5
- UniProtKB: A0A8J9C4H3 (UniProtKB/TrEMBL),   C9J8Q0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353213   ⟸   NM_001366284
- Peptide Label: isoform 7
- UniProtKB: A0A8Q3WKA7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000420027   ⟸   ENST00000491690
Ensembl Acc Id: ENSP00000418231   ⟸   ENST00000494517
Ensembl Acc Id: ENSP00000419519   ⟸   ENST00000482512
Ensembl Acc Id: ENSP00000484083   ⟸   ENST00000614479
Ensembl Acc Id: ENSP00000377275   ⟸   ENST00000393667
Ensembl Acc Id: ENSP00000417695   ⟸   ENST00000472475
Ensembl Acc Id: ENSP00000341848   ⟸   ENST00000340645
Ensembl Acc Id: ENSP00000417767   ⟸   ENST00000489400
RefSeq Acc Id: NP_001376560   ⟸   NM_001389631
- Peptide Label: isoform 8
- UniProtKB: A0A8Q3SHH2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000511640   ⟸   ENST00000695008
Ensembl Acc Id: ENSP00000511626   ⟸   ENST00000694979
Ensembl Acc Id: ENSP00000511641   ⟸   ENST00000695010
Ensembl Acc Id: ENSP00000511707   ⟸   ENST00000695118
Ensembl Acc Id: ENSP00000511642   ⟸   ENST00000695011
Ensembl Acc Id: ENSP00000511697   ⟸   ENST00000695106
Ensembl Acc Id: ENSP00000511628   ⟸   ENST00000694984
Ensembl Acc Id: ENSP00000511698   ⟸   ENST00000695107
Ensembl Acc Id: ENSP00000511617   ⟸   ENST00000694957
Ensembl Acc Id: ENSP00000511624   ⟸   ENST00000694977
Ensembl Acc Id: ENSP00000511650   ⟸   ENST00000695020
Ensembl Acc Id: ENSP00000511700   ⟸   ENST00000695109
Ensembl Acc Id: ENSP00000511649   ⟸   ENST00000695018
Ensembl Acc Id: ENSP00000511622   ⟸   ENST00000694974
Ensembl Acc Id: ENSP00000511651   ⟸   ENST00000695022
Ensembl Acc Id: ENSP00000511618   ⟸   ENST00000694958
Ensembl Acc Id: ENSP00000511645   ⟸   ENST00000695014
Ensembl Acc Id: ENSP00000511647   ⟸   ENST00000695016
Ensembl Acc Id: ENSP00000511646   ⟸   ENST00000695015
Ensembl Acc Id: ENSP00000511657   ⟸   ENST00000695036
Ensembl Acc Id: ENSP00000511627   ⟸   ENST00000694982
Ensembl Acc Id: ENSP00000511623   ⟸   ENST00000694975
Ensembl Acc Id: ENSP00000511699   ⟸   ENST00000695108
Ensembl Acc Id: ENSP00000511619   ⟸   ENST00000694959
Ensembl Acc Id: ENSP00000511658   ⟸   ENST00000695037
Ensembl Acc Id: ENSP00000511708   ⟸   ENST00000695119
Ensembl Acc Id: ENSP00000511648   ⟸   ENST00000695017
Ensembl Acc Id: ENSP00000511639   ⟸   ENST00000695006
Ensembl Acc Id: ENSP00000511709   ⟸   ENST00000695120
Ensembl Acc Id: ENSP00000511701   ⟸   ENST00000695110
Ensembl Acc Id: ENSP00000511621   ⟸   ENST00000694973
Ensembl Acc Id: ENSP00000511659   ⟸   ENST00000695040
RefSeq Acc Id: XP_047303950   ⟸   XM_047447994
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047303948   ⟸   XM_047447992
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047303945   ⟸   XM_047447989
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047303944   ⟸   XM_047447988
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047303951   ⟸   XM_047447995
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047303946   ⟸   XM_047447990
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047303949   ⟸   XM_047447993
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047303943   ⟸   XM_047447987
- Peptide Label: isoform X3
- UniProtKB: A0A8J9C4H3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303947   ⟸   XM_047447991
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047303952   ⟸   XM_047447996
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054202212   ⟸   XM_054346237
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054202209   ⟸   XM_054346234
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054202204   ⟸   XM_054346229
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054202201   ⟸   XM_054346226
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202197   ⟸   XM_054346222
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054202199   ⟸   XM_054346224
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054202196   ⟸   XM_054346221
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054202211   ⟸   XM_054346236
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054202208   ⟸   XM_054346233
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054202203   ⟸   XM_054346228
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054202200   ⟸   XM_054346225
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202213   ⟸   XM_054346238
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054202210   ⟸   XM_054346235
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054202207   ⟸   XM_054346232
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054202205   ⟸   XM_054346230
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054202202   ⟸   XM_054346227
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054202198   ⟸   XM_054346223
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202206   ⟸   XM_054346231
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054202214   ⟸   XM_054346239
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054202215   ⟸   XM_054346240
- Peptide Label: isoform X11
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14789-F1-model_v2 AlphaFold Q14789 1-1400 view protein structure
AF-Q14789-F2-model_v2 AlphaFold Q14789 201-1600 view protein structure
AF-Q14789-F3-model_v2 AlphaFold Q14789 401-1800 view protein structure
AF-Q14789-F4-model_v2 AlphaFold Q14789 601-2000 view protein structure
AF-Q14789-F5-model_v2 AlphaFold Q14789 801-2200 view protein structure
AF-Q14789-F6-model_v2 AlphaFold Q14789 1001-2400 view protein structure
AF-Q14789-F7-model_v2 AlphaFold Q14789 1201-2600 view protein structure
AF-Q14789-F8-model_v2 AlphaFold Q14789 1401-2800 view protein structure
AF-Q14789-F9-model_v2 AlphaFold Q14789 1601-3000 view protein structure
AF-Q14789-F10-model_v2 AlphaFold Q14789 1801-3200 view protein structure
AF-Q14789-F11-model_v2 AlphaFold Q14789 2001-3259 view protein structure

Promoters
RGD ID:6865396
Promoter ID:EPDNEW_H5863
Type:initiation region
Name:GOLGB1_1
Description:golgin B1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383121,749,741 - 121,749,801EPDNEW
RGD ID:6801089
Promoter ID:HG_KWN:45967
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_004487,   UC003EEJ.2,   UC010HRC.1,   UC010HRD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363122,950,999 - 122,951,499 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4429 AgrOrtholog
COSMIC GOLGB1 COSMIC
Ensembl Genes ENSG00000173230 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340645 ENTREZGENE
  ENST00000340645.10 UniProtKB/Swiss-Prot
  ENST00000393667 ENTREZGENE
  ENST00000393667.8 UniProtKB/Swiss-Prot
  ENST00000472475.2 UniProtKB/TrEMBL
  ENST00000482512.6 UniProtKB/TrEMBL
  ENST00000489400 ENTREZGENE
  ENST00000489400.2 UniProtKB/TrEMBL
  ENST00000491690.2 UniProtKB/TrEMBL
  ENST00000494517 ENTREZGENE
  ENST00000494517.6 UniProtKB/TrEMBL
  ENST00000614479 ENTREZGENE
  ENST00000614479.5 UniProtKB/TrEMBL
  ENST00000694957.1 UniProtKB/TrEMBL
  ENST00000694958 ENTREZGENE
  ENST00000694958.1 UniProtKB/TrEMBL
  ENST00000694959.1 UniProtKB/TrEMBL
  ENST00000694973 ENTREZGENE
  ENST00000694973.1 UniProtKB/TrEMBL
  ENST00000694974 ENTREZGENE
  ENST00000694974.1 UniProtKB/TrEMBL
  ENST00000694975.1 UniProtKB/TrEMBL
  ENST00000694977.1 UniProtKB/TrEMBL
  ENST00000694979.1 UniProtKB/TrEMBL
  ENST00000694982.1 UniProtKB/TrEMBL
  ENST00000694984.1 UniProtKB/TrEMBL
  ENST00000695006.1 UniProtKB/TrEMBL
  ENST00000695008 ENTREZGENE
  ENST00000695008.1 UniProtKB/TrEMBL
  ENST00000695010.1 UniProtKB/TrEMBL
  ENST00000695011.1 UniProtKB/TrEMBL
  ENST00000695014.1 UniProtKB/TrEMBL
  ENST00000695015.1 UniProtKB/TrEMBL
  ENST00000695016.1 UniProtKB/TrEMBL
  ENST00000695017 ENTREZGENE
  ENST00000695017.1 UniProtKB/TrEMBL
  ENST00000695018.1 UniProtKB/TrEMBL
  ENST00000695020.1 UniProtKB/TrEMBL
  ENST00000695022.1 UniProtKB/TrEMBL
  ENST00000695036.1 UniProtKB/TrEMBL
  ENST00000695037.1 UniProtKB/TrEMBL
  ENST00000695040.1 UniProtKB/TrEMBL
  ENST00000695106.1 UniProtKB/TrEMBL
  ENST00000695107.1 UniProtKB/TrEMBL
  ENST00000695109.1 UniProtKB/TrEMBL
  ENST00000695110.1 UniProtKB/TrEMBL
  ENST00000695118.1 UniProtKB/TrEMBL
  ENST00000695119.1 UniProtKB/TrEMBL
  ENST00000695120.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173230 GTEx
HGNC ID HGNC:4429 ENTREZGENE
Human Proteome Map GOLGB1 Human Proteome Map
InterPro GOLGB1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu_zip_homeo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2804 UniProtKB/Swiss-Prot
NCBI Gene 2804 ENTREZGENE
OMIM 602500 OMIM
PANTHER GOLGIN SUBFAMILY B MEMBER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18887 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28810 PharmGKB
SMART HALZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Myosin rod fragments UniProtKB/TrEMBL
UniProt A0A8J9C4H3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SHH2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SHH5_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHI6_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHI9_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHM0_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHM5_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHP0 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3SHQ4_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHQ5_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHQ9_HUMAN UniProtKB/TrEMBL
  A0A8Q3SHR7_HUMAN UniProtKB/TrEMBL
  A0A8Q3WK91_HUMAN UniProtKB/TrEMBL
  A0A8Q3WK92_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKA7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKB4_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKE2_HUMAN UniProtKB/TrEMBL
  A0A8Q3WKV5_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLC9_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLG1_HUMAN UniProtKB/TrEMBL
  A0A8Q3WLR7_HUMAN UniProtKB/TrEMBL
  B2ZZ91 ENTREZGENE
  C9J8Q0 ENTREZGENE, UniProtKB/TrEMBL
  D3DN92 ENTREZGENE
  E7EP74 ENTREZGENE
  E7EU81 ENTREZGENE, UniProtKB/TrEMBL
  F1T0J2 ENTREZGENE
  F8WF12_HUMAN UniProtKB/TrEMBL
  GOGB1_HUMAN UniProtKB/Swiss-Prot
  H0Y867 ENTREZGENE, UniProtKB/TrEMBL
  H7C5I7_HUMAN UniProtKB/TrEMBL
  Q14398 ENTREZGENE
  Q14789 ENTREZGENE
  Q6PG47_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2ZZ91 UniProtKB/Swiss-Prot
  D3DN92 UniProtKB/Swiss-Prot
  E7EP74 UniProtKB/Swiss-Prot
  F1T0J2 UniProtKB/Swiss-Prot
  Q14398 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 GOLGB1  golgin B1  GOLGB1  golgin B1, golgi integral membrane protein  Symbol and/or name change 5135510 APPROVED