rs4762683

This variant is located in the SLCO1B3 gene.

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

About SLCO1B3

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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