SLCO1B3

solute carrier organic anion transporter family member 1B3

Pharmacogene

Summary

This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity. [provided by RefSeq, Mar 2017]

Known Variants225 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5931218412:20,963,638G/A—benign
rs5979382412:20,963,713G/C—uncertain significance
rs7606949512:20,966,451T/G—benign
rs137450260212:20,966,491A/T—uncertain significance
rs118402553712:20,966,493G/C—uncertain significance
rs730532312:20,966,548C/T—benign
rs76321942412:20,968,676G/A—uncertain significance
rs6161240612:20,968,683A/G—likely benign
rs20079300212:20,968,698A/C—uncertain significance
rs36973655912:20,968,739C/T—conflicting classifications of pathogenicity
rs14994447312:20,968,741C/T—likely benign
rs56363448912:20,968,755A/C—uncertain significance
rs1073471012:20,968,828C/T—benign
rs7446440312:20,968,880A/T—benign
rs3522142612:20,994,536G/Tupstream gene variant—
rs438296112:20,996,314A/C——
rs1281546612:21,002,097T/Adownstream gene variant—
rs14058815912:21,005,310G/Aintron variant—
rs3536253112:21,006,794C/Aintron variant—
rs53463082112:21,007,974G/A—uncertain significance
rs14414346912:21,007,976C/T—uncertain significance
rs7904236512:21,007,985C/G—likely benign
rs140864250012:21,008,007G/A—uncertain significance
rs77420272612:21,008,020T/C—uncertain significance
rs186510619112:21,008,024A/C—uncertain significance
rs76153024712:21,008,025A/G—uncertain significance
rs249761506812:21,008,030C/T—likely benign
rs5732554312:21,008,031A/G—uncertain significance
rs77866881212:21,008,053T/C—uncertain significance
rs129296670312:21,008,108C/T—likely benign
rs414910912:21,008,356T/G—benign
rs729744412:21,010,297T/Cintron variant—
rs414911412:21,011,235T/C—benign
rs414911512:21,011,296A/G—benign
rs414911612:21,011,310T/C—benign
rs120212619112:21,011,409G/T—uncertain significance
rs37461619512:21,011,410A/C—likely benign
rs75185287812:21,011,438G/C—uncertain significance
rs75738621112:21,011,446T/C—likely benign
rs414911712:21,011,480T/Gmissense variantbenign
rs14533457012:21,011,481C/A—conflicting classifications of pathogenicity
rs77045204712:21,011,488A/G—likely benign
rs414911812:21,011,581G/A—benign
rs476268312:21,011,813C/T—benign
rs731398112:21,012,430T/G——
rs241794312:21,013,631C/T—benign
rs241794212:21,013,641A/C—benign
rs290047312:21,013,678A/G—benign
rs376400912:21,013,948C/T—benign
rs15003906612:21,013,995C/T—uncertain significance
rs36952956312:21,014,004G/T—uncertain significance
rs14662311612:21,014,025A/G—conflicting classifications of pathogenicity
rs5758590212:21,014,030A/G—likely benign
rs37033464812:21,014,050A/G—conflicting classifications of pathogenicity
rs74868587612:21,014,062A/G—uncertain significance
rs55725000312:21,014,094A/Gintron variant—
rs376400812:21,014,139C/G—benign
rs376400712:21,014,163T/A—benign
rs414911912:21,014,269G/A—benign
rs476279812:21,014,343C/T—benign
rs414912112:21,015,046G/C—benign
rs414912212:21,015,075G/T—benign
rs101738512:21,015,139G/T—benign
rs101738612:21,015,205C/A—benign
rs201773712:21,015,243C/G—benign
rs75979552812:21,015,336G/T—likely benign
rs37143066612:21,015,340C/A—uncertain significance
rs156559329612:21,015,349G/A—uncertain significance
rs142568226412:21,015,353A/T—likely benign
rs88604913412:21,015,382A/G—uncertain significance
rs77778848412:21,015,401G/A—uncertain significance
rs74694109712:21,015,405C/T—uncertain significance
rs18087537612:21,015,406G/A—conflicting classifications of pathogenicity
rs77544203212:21,015,421C/A—uncertain significance
rs14170393812:21,015,451T/C—uncertain significance
rs36864951712:21,015,456G/A—uncertain significance
rs88604913512:21,015,496A/T—uncertain significance
rs103626112:21,015,610A/G—benign
rs14267381712:21,015,706A/G—uncertain significance
rs186529503712:21,015,707G/A—uncertain significance
rs37584728612:21,015,708G/T—uncertain significance
rs11522744512:21,015,737C/A—uncertain significance
rs77904106912:21,015,758A/C—uncertain significance
rs731135812:21,015,760G/Amissense variantbenign
rs37401522912:21,015,763C/T—likely benign
rs74759543012:21,015,773G/A—uncertain significance
rs74616394112:21,015,783A/T—uncertain significance
rs20173627012:21,015,798A/G—uncertain significance
rs1768013712:21,015,906C/A——
rs241794012:21,017,875T/Cintron variantbenign
rs11723985312:21,018,956C/G——
rs3469111612:21,027,327C/Tintron variant—
rs382931112:21,028,093C/T—benign
rs75943570612:21,028,165C/G—uncertain significance
rs136152387212:21,028,172C/G—uncertain significance
rs90445833012:21,028,186C/T—uncertain significance
rs76767695112:21,028,198C/T—uncertain significance
rs74553850012:21,028,199G/A—uncertain significance
rs6173683012:21,028,200T/A—benign
rs77734847712:21,028,204G/C—uncertain significance

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.