rs34671512
This is a protein-altering variant in the SLCO1B1 gene.
▶ClinVar annotation
Rotor syndrome; not provided; SLCO1B1-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶Frequencies of single nucleotide polymorphisms and haplotypes of organic anion transporting polypeptide 1B1 SLCO1B1 gene in a Finnish populationAssociationN=468Marja K. Pasanen et al.(2006)· European Journal of Clinical Pharmacology
This study established high-throughput genotyping assays for major SNPs in the SLCO1B1 gene and determined their frequencies in 468 Finnish Caucasian subjects. The c.521T>C SNP (Val174Ala) had an allele frequency of 20.2%, and 26 haplotypes were identified, with the most common haplotype (c.571C) occurring at 35.6% frequency. The functionally significant c.521T>C variant existed in four major haplotypes (*16: 7.9%, *17: 6.9%, *5: 2.7%, *15: 2.4%), which are important for understanding OATP1B1-mediated drug pharmacokinetics and response.
About SLCO1B1
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 numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]
View all SLCO1B1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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