SLCO1B3 (solute carrier organic anion transporter family member 1B3) - Rat Genome Database
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Gene: SLCO1B3 (solute carrier organic anion transporter family member 1B3) Homo sapiens
Analyze
Symbol: SLCO1B3
Name: solute carrier organic anion transporter family member 1B3
RGD ID: 1350750
HGNC Page HGNC
Description: Predicted to have bile acid transmembrane transporter activity and organic anion transmembrane transporter activity. Predicted to be involved in bile acid and bile salt transport and sodium-independent organic anion transport. Localizes to plasma membrane. Implicated in bilirubin metabolic disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HBLRR; liver-specific organic anion transporter 2; liver-specific organic anion transporter 3TM13; LST-2; LST-3TM13; LST3; OATP-8; OATP1B3; OATP8; organic anion transporter 8; organic anion transporter LST-3c; organic anion-transporting polypeptide 8; SLC21A8; solute carrier family 21 (organic anion transporter), member 8; solute carrier family 21 member 8; solute carrier organic anion transporter family, member 1B3
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1220,810,702 - 20,916,911 (+)EnsemblGRCh38hg38GRCh38
GRCh381220,810,705 - 20,916,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371220,963,639 - 21,069,845 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361220,854,905 - 20,960,925 (+)NCBINCBI36hg18NCBI36
Build 341220,859,894 - 20,960,921NCBI
Celera1226,119,013 - 26,224,987 (+)NCBI
Cytogenetic Map12p12.2NCBI
HuRef1220,736,680 - 20,842,844 (+)NCBIHuRef
CHM1_11220,929,128 - 21,035,317 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(S)-naringenin  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol 17-glucosiduronic acid  (EXP,ISO)
2,2',4,4',5,6'-Hexabromodiphenyl ether  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-methylcholanthrene  (ISO)
8-(4-chlorophenylthio)-cAMP  (ISO)
acetamide  (ISO)
acetamiprid  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
allyl alcohol  (ISO)
ammonium chloride  (ISO)
apigenin  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atorvastatin calcium  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromosulfophthalein  (EXP)
budesonide  (EXP)
buta-1,3-diene  (ISO)
C60 fullerene  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
cefalotin  (ISO)
chenodeoxycholic acid  (EXP,ISO)
cholic acid  (EXP,ISO)
choline  (ISO)
ciprofibrate  (ISO)
ciprofloxacin  (ISO)
cisplatin  (EXP)
clarithromycin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
cyazofamid  (EXP)
cyclosporin A  (EXP)
dehydroepiandrosterone sulfate  (EXP)
deoxycholic acid  (EXP,ISO)
dexamethasone  (ISO)
dioscin  (ISO)
DPDPE  (ISO)
emodin  (ISO)
endosulfan  (ISO)
erythromycin estolate  (ISO)
estrone 3-sulfate  (EXP)
Fexofenadine hydrochloride  (EXP,ISO)
fluorescein  (EXP)
flutamide  (ISO)
fluvastatin  (EXP)
furan  (ISO)
fusidic acid  (EXP,ISO)
ginsenoside Rb1  (EXP)
ginsenoside Rc  (EXP)
ginsenoside Rd  (EXP)
ginsenoside Re  (EXP,ISO)
ginsenoside Rg1  (EXP,ISO)
glafenine  (ISO)
glimepiride  (EXP)
glyburide  (EXP)
GW 4064  (ISO)
hydroxyurea  (EXP)
ibuprofen  (ISO)
icariin  (EXP)
imipenem hydrate  (ISO)
indometacin  (ISO)
indoxyl sulfate  (EXP)
kaempferol  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (EXP,ISO)
mesalamine  (EXP)
methapyrilene  (ISO)
microcystin  (EXP,ISO)
microcystin LF  (EXP)
microcystin-LR  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
naringin  (EXP)
nateglinide  (EXP)
neomycin  (ISO)
nimesulide  (ISO)
notoginsenoside R1  (EXP,ISO)
obeticholic acid  (EXP,ISO)
ochratoxin A  (EXP,ISO)
okadaic acid  (EXP)
oleanolic acid  (ISO)
oltipraz  (EXP)
oroxylin A  (EXP)
oxycodone  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
perfluorobutanesulfonic acid  (EXP,ISO)
perfluorodecanoic acid  (ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phalloidin  (EXP,ISO)
phenobarbital  (EXP,ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
pravastatin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
probenecid  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
Repaglinide  (EXP)
rifampicin  (EXP)
rifamycin SV  (EXP)
rosuvastatin calcium  (EXP,ISO)
rutin  (EXP)
senecionine  (EXP,ISO)
sincalide  (EXP)
sodium arsenite  (ISO)
sodium chloride  (ISO)
sodium dichromate  (ISO)
spironolactone  (ISO)
taurocholic acid  (EXP,ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Triptolide  (ISO)
trospium chloride  (EXP)
trovafloxacin  (ISO)
ursodeoxycholic acid  (EXP,ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
warfarin  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:10320330   PMID:10779507   PMID:11159893   PMID:11375950   PMID:11677211   PMID:12055601   PMID:12477932   PMID:12695556   PMID:14579113   PMID:14702039   PMID:14739090  
PMID:14993604   PMID:15159445   PMID:15226676   PMID:16534140   PMID:16741617   PMID:16877380   PMID:17186002   PMID:17412826   PMID:17496208   PMID:17760952   PMID:17906856   PMID:18029348  
PMID:18082941   PMID:18180273   PMID:18314419   PMID:18321482   PMID:18391951   PMID:18509327   PMID:18509328   PMID:18519758   PMID:18537956   PMID:18690707   PMID:18695635   PMID:19074900  
PMID:19122334   PMID:19228751   PMID:19343046   PMID:19419973   PMID:19442037   PMID:19620935   PMID:19890249   PMID:20051929   PMID:20130966   PMID:20212519   PMID:20560925   PMID:20615467  
PMID:20635135   PMID:20639394   PMID:20660695   PMID:20679960   PMID:20720558   PMID:20877131   PMID:21212528   PMID:21256917   PMID:21266523   PMID:21278621   PMID:21606417   PMID:21615622  
PMID:21626360   PMID:21691816   PMID:21719246   PMID:21787759   PMID:21849517   PMID:21873635   PMID:21995462   PMID:22136368   PMID:22147445   PMID:22185815   PMID:22203093   PMID:22221095  
PMID:22227166   PMID:22232210   PMID:22240838   PMID:22326869   PMID:22352740   PMID:22580719   PMID:22695893   PMID:22771883   PMID:23215050   PMID:23236639   PMID:23340295   PMID:23352438  
PMID:23371916   PMID:23394475   PMID:23670789   PMID:23782748   PMID:23812637   PMID:23886114   PMID:23924606   PMID:24150606   PMID:24194513   PMID:24357722   PMID:24628404   PMID:24740327  
PMID:24762081   PMID:24825069   PMID:24855184   PMID:24946283   PMID:24989890   PMID:25056761   PMID:25173835   PMID:25200870   PMID:25345542   PMID:25391605   PMID:25456266   PMID:25578040  
PMID:25625007   PMID:26134461   PMID:26146841   PMID:26191226   PMID:26264344   PMID:26267044   PMID:26383540   PMID:26409184   PMID:26474710   PMID:27098745   PMID:27433848   PMID:27537383  
PMID:27980689   PMID:28013215   PMID:28063966   PMID:28216016   PMID:28389619   PMID:28429243   PMID:28444661   PMID:28493059   PMID:28644885   PMID:28815335   PMID:29107984   PMID:29146731  
PMID:29234073   PMID:29422623   PMID:29491222   PMID:29577869   PMID:29658575   PMID:29777022   PMID:29944058   PMID:30218633   PMID:30992538   PMID:31047942   PMID:31299240   PMID:31353905  
PMID:32587096  


Genomics

Comparative Map Data
SLCO1B3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1220,810,702 - 20,916,911 (+)EnsemblGRCh38hg38GRCh38
GRCh381220,810,705 - 20,916,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371220,963,639 - 21,069,845 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361220,854,905 - 20,960,925 (+)NCBINCBI36hg18NCBI36
Build 341220,859,894 - 20,960,921NCBI
Celera1226,119,013 - 26,224,987 (+)NCBI
Cytogenetic Map12p12.2NCBI
HuRef1220,736,680 - 20,842,844 (+)NCBIHuRef
CHM1_11220,929,128 - 21,035,317 (+)NCBICHM1_1
Slco1b2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396141,575,178 - 141,632,372 (+)NCBIGRCm39mm39
GRCm39 Ensembl6141,575,244 - 141,632,372 (+)Ensembl
GRCm386141,629,452 - 141,686,646 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6141,629,518 - 141,686,646 (+)EnsemblGRCm38mm10GRCm38
MGSCv376141,578,039 - 141,635,156 (+)NCBIGRCm37mm9NCBIm37
MGSCv366141,591,924 - 141,649,041 (+)NCBImm8
Celera6144,691,211 - 144,748,787 (+)NCBICelera
Cytogenetic Map6G2NCBI
cM Map672.57NCBI
Slco1b2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24174,551,463 - 174,619,988 (+)NCBI
Rnor_6.0 Ensembl4175,814,118 - 175,881,768 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04175,814,118 - 175,881,775 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04240,035,313 - 240,103,015 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44179,045,586 - 179,118,680 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14179,290,709 - 179,363,804 (+)NCBI
Celera4163,091,969 - 163,159,409 (+)NCBICelera
Cytogenetic Map4q44NCBI
SLCO1B3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11267,987,635 - 68,016,792 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01265,386,042 - 65,492,240 (-)NCBIMhudiblu_PPA_v0panPan3
SLCO1B3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2726,411,010 - 26,470,989 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12726,411,008 - 26,496,174 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Slco1b3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365485,593,908 - 5,682,187 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLCO1B3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1552,137,454 - 52,206,236 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2555,411,801 - 55,475,930 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLCO1B3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11120,637,429 - 20,760,577 (+)NCBI

Position Markers
SLC21A8_826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,069,049 - 21,069,798UniSTSGRCh37
Build 361220,960,316 - 20,961,065RGDNCBI36
Celera1226,224,377 - 26,225,127RGD
HuRef1220,842,047 - 20,842,797UniSTS
RH68705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,013,811 - 21,013,947UniSTSGRCh37
Build 361220,905,078 - 20,905,214RGDNCBI36
Celera1226,169,187 - 26,169,323RGD
Cytogenetic Map12p12UniSTS
Cytogenetic Map12p12.2UniSTS
HuRef1220,786,877 - 20,787,013UniSTS
GeneMap99-GB4 RH Map1278.67UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:415
Count of miRNA genes:262
Interacting mature miRNAs:277
Transcripts:ENST00000261196, ENST00000381545, ENST00000540853, ENST00000544370, ENST00000545880, ENST00000553473
Prediction methods:Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 50 321 322 1 322 9 4 10 2 14 20 3 8
Low 195 19 193 172 49 82 609 17 602 13 458 201 99 15 587
Below cutoff 1356 946 690 93 485 30 1360 756 917 46 588 768 64 489 781 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB669023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF195785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ400776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY342017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG567966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM968322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261196   ⟹   ENSP00000261196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,815,672 - 20,916,911 (+)Ensembl
RefSeq Acc Id: ENST00000381545   ⟹   ENSP00000370956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,810,705 - 20,916,911 (+)Ensembl
RefSeq Acc Id: ENST00000540853   ⟹   ENSP00000442000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,810,702 - 20,875,381 (+)Ensembl
RefSeq Acc Id: ENST00000544370   ⟹   ENSP00000443225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,862,459 - 20,902,333 (+)Ensembl
RefSeq Acc Id: ENST00000545880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1220,855,092 - 20,861,054 (+)Ensembl
RefSeq Acc Id: NM_001349920   ⟹   NP_001336849
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,822,548 - 20,916,911 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019844   ⟹   NP_062818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,810,705 - 20,916,911 (+)NCBI
GRCh371220,963,638 - 21,070,019 (+)NCBI
Build 361220,854,905 - 20,960,925 (+)NCBI Archive
HuRef1220,736,680 - 20,842,844 (+)NCBI
CHM1_11220,929,128 - 21,035,317 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_062818   ⟸   NM_019844
- Peptide Label: isoform 1
- UniProtKB: Q9NPD5 (UniProtKB/Swiss-Prot),   B3KP78 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001336849   ⟸   NM_001349920
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000443225   ⟸   ENST00000544370
RefSeq Acc Id: ENSP00000261196   ⟸   ENST00000261196
RefSeq Acc Id: ENSP00000370956   ⟸   ENST00000381545
RefSeq Acc Id: ENSP00000442000   ⟸   ENST00000540853
Protein Domains
Kazal-like   MFS

Promoters
RGD ID:7223377
Promoter ID:EPDNEW_H17434
Type:multiple initiation site
Name:SLCO1B3_5
Description:solute carrier organic anion transporter family member 1B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17435  EPDNEW_H17436  EPDNEW_H17437  EPDNEW_H17438  EPDNEW_H17439  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,807,520 - 20,807,580EPDNEW
RGD ID:7223379
Promoter ID:EPDNEW_H17435
Type:initiation region
Name:SLCO1B3_6
Description:solute carrier organic anion transporter family member 1B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17434  EPDNEW_H17436  EPDNEW_H17437  EPDNEW_H17438  EPDNEW_H17439  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,807,756 - 20,807,816EPDNEW
RGD ID:7223381
Promoter ID:EPDNEW_H17436
Type:initiation region
Name:SLCO1B3_2
Description:solute carrier organic anion transporter family member 1B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17434  EPDNEW_H17435  EPDNEW_H17437  EPDNEW_H17438  EPDNEW_H17439  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,810,705 - 20,810,765EPDNEW
RGD ID:7223383
Promoter ID:EPDNEW_H17437
Type:initiation region
Name:SLCO1B3_1
Description:solute carrier organic anion transporter family member 1B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17434  EPDNEW_H17435  EPDNEW_H17436  EPDNEW_H17438  EPDNEW_H17439  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,822,543 - 20,822,603EPDNEW
RGD ID:7223385
Promoter ID:EPDNEW_H17438
Type:multiple initiation site
Name:SLCO1B3_4
Description:solute carrier organic anion transporter family member 1B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17434  EPDNEW_H17435  EPDNEW_H17436  EPDNEW_H17437  EPDNEW_H17439  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,875,432 - 20,875,492EPDNEW
RGD ID:7223387
Promoter ID:EPDNEW_H17439
Type:initiation region
Name:SLCO1B3_3
Description:solute carrier organic anion transporter family member 1B3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17434  EPDNEW_H17435  EPDNEW_H17436  EPDNEW_H17437  EPDNEW_H17438  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381220,901,380 - 20,901,440EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
SLCO1B3, 7.2-KB DEL deletion Rotor syndrome [RCV000023444] Chr12:12p12.2 pathogenic
R253* single nucleotide variant Rotor syndrome [RCV000023445] Chr12:12p12.2 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23
pathogenic
GRCh38/hg38 12p12.2-12.1(chr12:20855565-21224388)x1 copy number loss See cases [RCV000053277] Chr12:20855565..21224388 [GRCh38]
Chr12:21008499..21377322 [GRCh37]
Chr12:20899766..21268589 [NCBI36]
Chr12:12p12.2-12.1
uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
NM_019844.3(SLCO1B3):c.1200C>T (p.Phe400=) single nucleotide variant Malignant melanoma [RCV000069931] Chr12:20879500 [GRCh38]
Chr12:21032434 [GRCh37]
Chr12:20923701 [NCBI36]
Chr12:12p12.2
not provided
NM_019844.3(SLCO1B3):c.1881C>T (p.Gly627=) single nucleotide variant Malignant melanoma [RCV000069932] Chr12:20916019 [GRCh38]
Chr12:21068953 [GRCh37]
Chr12:20960220 [NCBI36]
Chr12:12p12.2
not provided
NM_019844.3(SLCO1B3):c.2002G>A (p.Glu668Lys) single nucleotide variant Malignant melanoma [RCV000069933] Chr12:20916140 [GRCh38]
Chr12:21069074 [GRCh37]
Chr12:20960341 [NCBI36]
Chr12:12p12.2
not provided
NM_019844.3(SLCO1B3):c.1774G>T (p.Gly592Trp) single nucleotide variant Malignant melanoma [RCV000062468] Chr12:20901376 [GRCh38]
Chr12:21054310 [GRCh37]
Chr12:20945577 [NCBI36]
Chr12:12p12.2
not provided
NM_019844.3(SLCO1B3):c.1683-6725T>C single nucleotide variant Lung cancer [RCV000110869] Chr12:20891711 [GRCh38]
Chr12:21044645 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.727+2087T>C single nucleotide variant Gilbert's syndrome [RCV000999566] Chr12:20864941 [GRCh38]
Chr12:21017875 [GRCh37]
Chr12:12p12.2
benign
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1
likely pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 copy number loss See cases [RCV000135620] Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.2-12.1(chr12:20864739-21203634)x1 copy number loss See cases [RCV000139141] Chr12:20864739..21203634 [GRCh38]
Chr12:21017673..21356568 [GRCh37]
Chr12:20908940..21247835 [NCBI36]
Chr12:12p12.2-12.1
likely benign
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.2-12.1(chr12:20864642-21203648)x1 copy number loss See cases [RCV000140011] Chr12:20864642..21203648 [GRCh38]
Chr12:21017576..21356582 [GRCh37]
Chr12:20908843..21247849 [NCBI36]
Chr12:12p12.2-12.1
benign|likely benign|conflicting data from submitters
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_019844.4(SLCO1B3):c.413G>T (p.Ser138Ile) single nucleotide variant Rotor syndrome [RCV000378489]|not specified [RCV000239345] Chr12:20861070 [GRCh38]
Chr12:21014004 [GRCh37]
Chr12:12p12.2
pathogenic|uncertain significance
NM_001371097.1(SLCO1B3-SLCO1B7):c.1865+19721C>T single nucleotide variant Gilbert's syndrome [RCV000999567] Chr12:20921188 [GRCh38]
Chr12:21074122 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.1557A>G (p.Ala519=) single nucleotide variant Rotor syndrome [RCV000328449]|not specified [RCV000253382] Chr12:20883477 [GRCh38]
Chr12:21036411 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.334T>G (p.Ser112Ala) single nucleotide variant Rotor syndrome [RCV000356421]|not specified [RCV000245173] Chr12:20858546 [GRCh38]
Chr12:21011480 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_019844.4(SLCO1B3):c.699G>A (p.Met233Ile) single nucleotide variant Rotor syndrome [RCV000351083]|not specified [RCV000253120] Chr12:20862826 [GRCh38]
Chr12:21015760 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.360-3C>T single nucleotide variant Rotor syndrome [RCV000316878]|not specified [RCV000248330] Chr12:20861014 [GRCh38]
Chr12:21013948 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.1977G>A (p.Ser659=) single nucleotide variant Rotor syndrome [RCV000300209] Chr12:20916115 [GRCh38]
Chr12:21069049 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.471A>G (p.Ile157Met) single nucleotide variant Rotor syndrome [RCV000320638] Chr12:20861128 [GRCh38]
Chr12:21014062 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1241C>T (p.Thr414Ile) single nucleotide variant Rotor syndrome [RCV000321755] Chr12:20879541 [GRCh38]
Chr12:21032475 [GRCh37]
Chr12:12p12.2
likely benign|uncertain significance
NM_019844.4(SLCO1B3):c.767G>C (p.Gly256Ala) single nucleotide variant Rotor syndrome [RCV000368578] Chr12:20875274 [GRCh38]
Chr12:21028208 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.1347A>G (p.Ala449=) single nucleotide variant Rotor syndrome [RCV000322859]|not provided [RCV000963302] Chr12:20880870 [GRCh38]
Chr12:21033804 [GRCh37]
Chr12:12p12.2
benign|likely benign|uncertain significance
NM_019844.4(SLCO1B3):c.439A>G (p.Thr147Ala) single nucleotide variant Rotor syndrome [RCV000286680]|not provided [RCV000947440] Chr12:20861096 [GRCh38]
Chr12:21014030 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.592G>A (p.Asp198Asn) single nucleotide variant Rotor syndrome [RCV000347598] Chr12:20862522 [GRCh38]
Chr12:21015456 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*610A>G single nucleotide variant Rotor syndrome [RCV000372822] Chr12:20916857 [GRCh38]
Chr12:21069791 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1308C>T (p.Ala436=) single nucleotide variant Rotor syndrome [RCV000267645] Chr12:20879608 [GRCh38]
Chr12:21032542 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*136C>T single nucleotide variant Rotor syndrome [RCV000305649] Chr12:20916383 [GRCh38]
Chr12:21069317 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.676C>G (p.Leu226Val) single nucleotide variant Rotor syndrome [RCV000289150] Chr12:20862803 [GRCh38]
Chr12:21015737 [GRCh37]
Chr12:12p12.2
benign|uncertain significance
NM_019844.4(SLCO1B3):c.542G>A (p.Arg181His) single nucleotide variant Rotor syndrome [RCV000290108]|not provided [RCV000890741] Chr12:20862472 [GRCh38]
Chr12:21015406 [GRCh37]
Chr12:12p12.2
likely benign|uncertain significance
NM_019844.4(SLCO1B3):c.-90C>T single nucleotide variant Rotor syndrome [RCV000274757] Chr12:20813614 [GRCh38]
Chr12:20966548 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.853_856del (p.Lys285fs) deletion Rotor syndrome [RCV000402803] Chr12:20875360..20875363 [GRCh38]
Chr12:21028294..21028297 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.335C>A (p.Ser112Tyr) single nucleotide variant Rotor syndrome [RCV000259250]|not provided [RCV000927538] Chr12:20858547 [GRCh38]
Chr12:21011481 [GRCh37]
Chr12:12p12.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019844.4(SLCO1B3):c.1366C>T (p.Leu456Phe) single nucleotide variant Rotor syndrome [RCV000382072]|not provided [RCV000756664] Chr12:20880889 [GRCh38]
Chr12:21033823 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.727+10A>G single nucleotide variant Rotor syndrome [RCV000403558] Chr12:20862864 [GRCh38]
Chr12:21015798 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1272A>G (p.Leu424=) single nucleotide variant Rotor syndrome [RCV000357737] Chr12:20879572 [GRCh38]
Chr12:21032506 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) single nucleotide variant Rotor syndrome [RCV000383073] Chr12:20883513 [GRCh38]
Chr12:21036447 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.-181+15G>C single nucleotide variant Rotor syndrome [RCV000405991] Chr12:20810779 [GRCh38]
Chr12:20963713 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1614T>C (p.Val538=) single nucleotide variant Rotor syndrome [RCV000293477] Chr12:20883534 [GRCh38]
Chr12:21036468 [GRCh37]
Chr12:12p12.2
likely benign|uncertain significance
NM_019844.4(SLCO1B3):c.1135+8A>G single nucleotide variant Rotor syndrome [RCV000261867] Chr12:20877944 [GRCh38]
Chr12:21030878 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*622G>A single nucleotide variant Rotor syndrome [RCV000278301] Chr12:20916869 [GRCh38]
Chr12:21069803 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.-180-7T>G single nucleotide variant Rotor syndrome [RCV000314644] Chr12:20813517 [GRCh38]
Chr12:20966451 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.*548A>T single nucleotide variant Rotor syndrome [RCV000386209] Chr12:20916795 [GRCh38]
Chr12:21069729 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.988A>G (p.Lys330Glu) single nucleotide variant Rotor syndrome [RCV000297252] Chr12:20877789 [GRCh38]
Chr12:21030723 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.108C>G (p.Phe36Leu) single nucleotide variant Rotor syndrome [RCV000318161]|not provided [RCV000906015] Chr12:20855051 [GRCh38]
Chr12:21007985 [GRCh37]
Chr12:12p12.2
benign|uncertain significance
NM_019844.4(SLCO1B3):c.1992A>C (p.Lys664Asn) single nucleotide variant Rotor syndrome [RCV000341210] Chr12:20916130 [GRCh38]
Chr12:21069064 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*355dup duplication Rotor syndrome [RCV000366600] Chr12:20916594..20916595 [GRCh38]
Chr12:21069528..21069529 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.1855G>A (p.Val619Ile) single nucleotide variant Rotor syndrome [RCV000280116] Chr12:20901457 [GRCh38]
Chr12:21054391 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1865+11G>A single nucleotide variant Rotor syndrome [RCV000393960] Chr12:20901478 [GRCh38]
Chr12:21054412 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*307T>C single nucleotide variant Rotor syndrome [RCV000270910] Chr12:20916554 [GRCh38]
Chr12:21069488 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*399A>G single nucleotide variant Rotor syndrome [RCV000272003] Chr12:20916646 [GRCh38]
Chr12:21069580 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*339G>C single nucleotide variant Rotor syndrome [RCV000307287] Chr12:20916586 [GRCh38]
Chr12:21069520 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1747+5G>A single nucleotide variant Rotor syndrome [RCV000352683] Chr12:20898505 [GRCh38]
Chr12:21051439 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*540G>A single nucleotide variant Rotor syndrome [RCV000331670] Chr12:20916787 [GRCh38]
Chr12:21069721 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*562G>T single nucleotide variant Rotor syndrome [RCV000332059] Chr12:20916809 [GRCh38]
Chr12:21069743 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*8T>C single nucleotide variant Rotor syndrome [RCV000404371] Chr12:20916255 [GRCh38]
Chr12:21069189 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.759T>A (p.Arg253=) single nucleotide variant Rotor syndrome [RCV000311520]|not provided [RCV000972497] Chr12:20875266 [GRCh38]
Chr12:21028200 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.*560T>C single nucleotide variant Rotor syndrome [RCV000277071] Chr12:20916807 [GRCh38]
Chr12:21069741 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1857A>T (p.Val619=) single nucleotide variant Rotor syndrome [RCV000335190]|not provided [RCV000895730] Chr12:20901459 [GRCh38]
Chr12:21054393 [GRCh37]
Chr12:12p12.2
benign|uncertain significance
NM_019844.4(SLCO1B3):c.*627G>A single nucleotide variant Rotor syndrome [RCV000337788] Chr12:20916874 [GRCh38]
Chr12:21069808 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.3(SLCO1B3):c.-241G>A single nucleotide variant Rotor syndrome [RCV000363014] Chr12:20810704 [GRCh38]
Chr12:20963638 [GRCh37]
Chr12:12p12.2
benign|likely benign
NM_019844.4(SLCO1B3):c.-128del deletion Rotor syndrome [RCV000367033] Chr12:20813574 [GRCh38]
Chr12:20966508 [GRCh37]
Chr12:12p12.2
likely benign
NM_019844.4(SLCO1B3):c.628+4A>T single nucleotide variant Rotor syndrome [RCV000391220] Chr12:20862562 [GRCh38]
Chr12:21015496 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1432G>C (p.Gly478Arg) single nucleotide variant Rotor syndrome [RCV000287450] Chr12:20880955 [GRCh38]
Chr12:21033889 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1004A>G (p.Asn335Ser) single nucleotide variant Rotor syndrome [RCV000356734] Chr12:20877805 [GRCh38]
Chr12:21030739 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1748-12C>T single nucleotide variant Rotor syndrome [RCV000393919] Chr12:20901338 [GRCh38]
Chr12:21054272 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.518A>G (p.Tyr173Cys) single nucleotide variant Rotor syndrome [RCV000377542] Chr12:20862448 [GRCh38]
Chr12:21015382 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*219G>A single nucleotide variant Rotor syndrome [RCV000360418] Chr12:20916466 [GRCh38]
Chr12:21069400 [GRCh37]
Chr12:12p12.2
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19148014-21314899)x1 copy number loss See cases [RCV000446365] Chr12:19148014..21314899 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:20968621-21392334)x1 copy number loss See cases [RCV000447502] Chr12:20968621..21392334 [GRCh37]
Chr12:12p12.2-12.1
likely benign
GRCh37/hg19 12p12.2(chr12:20968621-21032468)x1 copy number loss See cases [RCV000447040] Chr12:20968621..21032468 [GRCh37]
Chr12:12p12.2
likely benign
NM_019844.4(SLCO1B3):c.11A>G (p.His4Arg) single nucleotide variant not provided [RCV000419546] Chr12:20815749 [GRCh38]
Chr12:20968683 [GRCh37]
Chr12:12p12.2
likely benign
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) single nucleotide variant not provided [RCV000421123] Chr12:20855097 [GRCh38]
Chr12:21008031 [GRCh37]
Chr12:12p12.2
uncertain significance
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19193233-21709479)x3 copy number gain See cases [RCV000448936] Chr12:19193233..21709479 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 copy number gain See cases [RCV000448036] Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_019844.4(SLCO1B3):c.1833G>A (p.Gly611=) single nucleotide variant Rotor syndrome [RCV000506491] Chr12:20901435 [GRCh38]
Chr12:21054369 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
NM_019844.4(SLCO1B3):c.-7_-4del deletion Rotor syndrome [RCV000507804] Chr12:20815732..20815735 [GRCh38]
Chr12:20968666..20968669 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_019844.4(SLCO1B3):c.275A>G (p.His92Arg) single nucleotide variant Rotor syndrome [RCV001284874] Chr12:20858487 [GRCh38]
Chr12:21011421 [GRCh37]
Chr12:12p12.2
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21415634)x1 copy number loss not provided [RCV000683432] Chr12:21007731..21415634 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_019844.4(SLCO1B3):c.404C>T (p.Ser135Leu) single nucleotide variant Rotor syndrome [RCV001114405]|not specified [RCV001000624] Chr12:20861061 [GRCh38]
Chr12:21013995 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.728-4C>G single nucleotide variant not specified [RCV001001023] Chr12:20875231 [GRCh38]
Chr12:21028165 [GRCh37]
Chr12:12p12.2
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p12.2(chr12:20996286-21008004)x1 copy number loss not provided [RCV000737796] Chr12:20996286..21008004 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p12.2(chr12:20998860-21032242)x3 copy number gain not provided [RCV000737797] Chr12:20998860..21032242 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p12.2(chr12:21017288-21037895)x1 copy number loss not provided [RCV000737798] Chr12:21017288..21037895 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) single nucleotide variant Rotor syndrome [RCV001110375]|not provided [RCV000756666] Chr12:20862414 [GRCh38]
Chr12:21015348 [GRCh37]
Chr12:12p12.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019844.4(SLCO1B3):c.1794_1795del (p.Cys599fs) deletion not provided [RCV000756665] Chr12:20901396..20901397 [GRCh38]
Chr12:21054330..21054331 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1101C>T (p.Tyr367=) single nucleotide variant Rotor syndrome [RCV001114495]|not provided [RCV000901412] Chr12:20877902 [GRCh38]
Chr12:21030836 [GRCh37]
Chr12:12p12.2
likely benign|uncertain significance
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs) duplication Rotor syndrome [RCV000988797]|not provided [RCV000883983] Chr12:20855146..20855147 [GRCh38]
Chr12:21008080..21008081 [GRCh37]
Chr12:12p12.2
benign|uncertain significance
NM_019844.4(SLCO1B3):c.1074C>T (p.Tyr358=) single nucleotide variant Rotor syndrome [RCV001114494]|not provided [RCV000898128] Chr12:20877875 [GRCh38]
Chr12:21030809 [GRCh37]
Chr12:12p12.2
likely benign|uncertain significance
NM_019844.4(SLCO1B3):c.428_431TAAT[1] (p.Asn145fs) microsatellite Rotor syndrome [RCV000779094] Chr12:20861084..20861087 [GRCh38]
Chr12:21014018..21014021 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.971-2A>G single nucleotide variant Rotor syndrome [RCV000779095] Chr12:20877770 [GRCh38]
Chr12:21030704 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.977del (p.Phe326fs) deletion Rotor syndrome [RCV000779096] Chr12:20877773 [GRCh38]
Chr12:21030707 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.203dup (p.Leu68fs) duplication Rotor syndrome [RCV000778357] Chr12:20855143..20855144 [GRCh38]
Chr12:21008077..21008078 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.291del (p.Ile97fs) deletion Rotor syndrome [RCV000778358] Chr12:20858502 [GRCh38]
Chr12:21011436 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.360-3_362del deletion Rotor syndrome [RCV000778359] Chr12:20861011..20861016 [GRCh38]
Chr12:21013945..21013950 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.69C>T (p.Arg23=) single nucleotide variant Rotor syndrome [RCV001113023]|not provided [RCV000892655] Chr12:20815807 [GRCh38]
Chr12:20968741 [GRCh37]
Chr12:12p12.2
benign
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21415496)x1 copy number loss not provided [RCV000848727] Chr12:21007731..21415496 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:21000676-21409819)x1 copy number loss not provided [RCV000845971] Chr12:21000676..21409819 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21346129)x1 copy number loss not provided [RCV000849288] Chr12:21007731..21346129 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_019844.4(SLCO1B3):c.434A>G (p.Asn145Ser) single nucleotide variant Rotor syndrome [RCV001114406] Chr12:20861091 [GRCh38]
Chr12:21014025 [GRCh37]
Chr12:12p12.2
benign|conflicting interpretations of pathogenicity
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21415496)x1 copy number loss not provided [RCV000847415] Chr12:21007731..21415496 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) single nucleotide variant Rotor syndrome [RCV001111210]|not provided [RCV000896565] Chr12:20883599 [GRCh38]
Chr12:21036533 [GRCh37]
Chr12:12p12.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:21000817-21415824)x1 copy number loss not provided [RCV000849632] Chr12:21000817..21415824 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21409819)x1 copy number loss not provided [RCV000848839] Chr12:21007731..21409819 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1 copy number loss not provided [RCV000846444] Chr12:19762818..22659824 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_019844.4(SLCO1B3):c.176T>C (p.Phe59Ser) single nucleotide variant Rotor syndrome [RCV001113027] Chr12:20855119 [GRCh38]
Chr12:21008053 [GRCh37]
Chr12:12p12.2
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21415824)x1 copy number loss not provided [RCV000845928] Chr12:21007731..21415824 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
NM_019844.4(SLCO1B3):c.803T>G (p.Phe268Cys) single nucleotide variant Rotor syndrome [RCV001113113] Chr12:20875310 [GRCh38]
Chr12:21028244 [GRCh37]
Chr12:12p12.2
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p12.2-12.1(chr12:21007731-21415496)x1 copy number loss not provided [RCV000845712] Chr12:21007731..21415496 [GRCh37]
Chr12:12p12.2-12.1
uncertain significance
GRCh37/hg19 12p12.2-12.1(chr12:21017576-21404166) copy number loss Rotor syndrome [RCV001195113] Chr12:21017576..21404166 [GRCh37]
Chr12:12p12.2-12.1
pathogenic
NM_019844.4(SLCO1B3):c.*509T>C single nucleotide variant Rotor syndrome [RCV001114580] Chr12:20916756 [GRCh38]
Chr12:21069690 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*362A>C single nucleotide variant Rotor syndrome [RCV001114578] Chr12:20916609 [GRCh38]
Chr12:21069543 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.-145G>C single nucleotide variant Rotor syndrome [RCV001111043] Chr12:20813559 [GRCh38]
Chr12:20966493 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.645A>G (p.Ile215Met) single nucleotide variant Rotor syndrome [RCV001111116] Chr12:20862772 [GRCh38]
Chr12:21015706 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.727+7A>G single nucleotide variant Rotor syndrome [RCV001111118] Chr12:20862861 [GRCh38]
Chr12:21015795 [GRCh37]
Chr12:12p12.2
likely benign
NM_019844.4(SLCO1B3):c.541C>T (p.Arg181Cys) single nucleotide variant Rotor syndrome [RCV001110376] Chr12:20862471 [GRCh38]
Chr12:21015405 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1833= (p.Gly611=) variation not provided [RCV000948217] Chr12:20901435 [GRCh38]
Chr12:21054369 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.801A>G (p.Leu267=) single nucleotide variant Rotor syndrome [RCV001113112]|not provided [RCV000912051] Chr12:20875308 [GRCh38]
Chr12:21028242 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.*642G>A single nucleotide variant Rotor syndrome [RCV001111308] Chr12:20916889 [GRCh38]
Chr12:21069823 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.1313T>C (p.Leu438Pro) single nucleotide variant not specified [RCV001001859] Chr12:20879613 [GRCh38]
Chr12:21032547 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.973T>A (p.Phe325Ile) single nucleotide variant Rotor syndrome [RCV001113114] Chr12:20877774 [GRCh38]
Chr12:21030708 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.731C>G (p.Thr244Ser) single nucleotide variant Rotor syndrome [RCV001113109] Chr12:20875238 [GRCh38]
Chr12:21028172 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) single nucleotide variant Rotor syndrome [RCV001110374] Chr12:20861116 [GRCh38]
Chr12:21014050 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.557C>A (p.Thr186Asn) single nucleotide variant Rotor syndrome [RCV001110377] Chr12:20862487 [GRCh38]
Chr12:21015421 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1332-15A>G single nucleotide variant Rotor syndrome [RCV001110460] Chr12:20880840 [GRCh38]
Chr12:21033774 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.-147A>T single nucleotide variant Rotor syndrome [RCV001111042] Chr12:20813557 [GRCh38]
Chr12:20966491 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.712G>A (p.Gly238Arg) single nucleotide variant Rotor syndrome [RCV001111117] Chr12:20862839 [GRCh38]
Chr12:21015773 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1659C>T (p.Thr553=) single nucleotide variant Rotor syndrome [RCV001111209] Chr12:20883579 [GRCh38]
Chr12:21036513 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1741A>G (p.Thr581Ala) single nucleotide variant Rotor syndrome [RCV001111211] Chr12:20898494 [GRCh38]
Chr12:21051428 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1747+3A>G single nucleotide variant Rotor syndrome [RCV001111212] Chr12:20898503 [GRCh38]
Chr12:21051437 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.99C>T (p.Ala33=) single nucleotide variant Rotor syndrome [RCV001113024] Chr12:20855042 [GRCh38]
Chr12:21007976 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1712C>G (p.Ala571Gly) single nucleotide variant not specified [RCV001001985] Chr12:20898465 [GRCh38]
Chr12:21051399 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1610A>G (p.Tyr537Cys) single nucleotide variant not specified [RCV001002045] Chr12:20883530 [GRCh38]
Chr12:21036464 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.147A>C (p.Lys49Asn) single nucleotide variant Rotor syndrome [RCV001113025] Chr12:20855090 [GRCh38]
Chr12:21008024 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.757C>T (p.Arg253Cys) single nucleotide variant Rotor syndrome [RCV001113110] Chr12:20875264 [GRCh38]
Chr12:21028198 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1129T>C (p.Leu377=) single nucleotide variant Rotor syndrome [RCV001114496] Chr12:20877930 [GRCh38]
Chr12:21030864 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1217G>A (p.Gly406Glu) single nucleotide variant Rotor syndrome [RCV001114497] Chr12:20879517 [GRCh38]
Chr12:21032451 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.26A>C (p.Lys9Thr) single nucleotide variant Rotor syndrome [RCV001113022] Chr12:20815764 [GRCh38]
Chr12:20968698 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.148A>G (p.Ile50Val) single nucleotide variant Rotor syndrome [RCV001113026] Chr12:20855091 [GRCh38]
Chr12:21008025 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.758G>A (p.Arg253His) single nucleotide variant Rotor syndrome [RCV001113111] Chr12:20875265 [GRCh38]
Chr12:21028199 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*437A>G single nucleotide variant Rotor syndrome [RCV001114579] Chr12:20916684 [GRCh38]
Chr12:21069618 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.*641C>T single nucleotide variant Rotor syndrome [RCV001108956] Chr12:20916888 [GRCh38]
Chr12:21069822 [GRCh37]
Chr12:12p12.2
uncertain significance
NC_000012.11:g.21014093_21014094insL1 insertion constitutional indocyanine green excretory defect [RCV001260189]   pathogenic
NC_000012.11:g.21014093_21014094insLINE1 insertion Rotor syndrome [RCV001255630]   pathogenic
NM_019844.4(SLCO1B3):c.-28_-11del deletion Rotor syndrome [RCV001284820] Chr12:20815711..20815728 [GRCh38]
Chr12:20968645..20968662 [GRCh37]
Chr12:12p12.2
benign
NM_019844.4(SLCO1B3):c.1598A>G (p.Lys533Arg) single nucleotide variant Rotor syndrome [RCV001289695] Chr12:20883518 [GRCh38]
Chr12:21036452 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.683C>A (p.Ser228Tyr) single nucleotide variant Rotor syndrome [RCV001287540] Chr12:20862810 [GRCh38]
Chr12:21015744 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.560C>G (p.Pro187Arg) single nucleotide variant Rotor syndrome [RCV001289726] Chr12:20862490 [GRCh38]
Chr12:21015424 [GRCh37]
Chr12:12p12.2
uncertain significance
NM_019844.4(SLCO1B3):c.1309G>A (p.Gly437Ser) single nucleotide variant Rotor syndrome [RCV001286075] Chr12:20879609 [GRCh38]
Chr12:21032543 [GRCh37]
Chr12:12p12.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10961 AgrOrtholog
COSMIC SLCO1B3 COSMIC
Ensembl Genes ENSG00000111700 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261196 UniProtKB/Swiss-Prot
  ENSP00000370956 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000442000 UniProtKB/TrEMBL
  ENSP00000443225 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261196 UniProtKB/Swiss-Prot
  ENST00000381545 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000540853 UniProtKB/TrEMBL
  ENST00000544370 UniProtKB/TrEMBL
GTEx ENSG00000111700 GTEx
HGNC ID HGNC:10961 ENTREZGENE
Human Proteome Map SLCO1B3 Human Proteome Map
InterPro Kazal_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS_trans_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28234 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 28234 ENTREZGENE
OMIM 237450 OMIM
  605495 OMIM
PANTHER PTHR11388 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kazal_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35844 PharmGKB, RGD
PROSITE KAZAL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MFS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF100895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF103473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs oat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAX6_HUMAN UniProtKB/TrEMBL
  A0A1J1EWS0_HUMAN UniProtKB/TrEMBL
  B3KP78 ENTREZGENE, UniProtKB/TrEMBL
  F5H8K0_HUMAN UniProtKB/TrEMBL
  H0YGG9_HUMAN UniProtKB/TrEMBL
  Q0VGL9_HUMAN UniProtKB/TrEMBL
  Q6NSD0_HUMAN UniProtKB/TrEMBL
  Q9NPD5 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E7EMT8 UniProtKB/Swiss-Prot
  Q5JAR4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 SLCO1B3  solute carrier organic anion transporter family member 1B3    solute carrier organic anion transporter family, member 1B3  Symbol and/or name change 5135510 APPROVED