rs17863783
This is a synonymous variant in the UGT1A10 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Rs11892031[A] on chromosome 2q37 in an intronic region of the UGT1A locus is associated with urinary bladder cancer riskAssociationN=3,946Selinski S. et al.(2012)· Archives of Toxicology
This study confirmed the association of rs11892031[A] in the UGT1A locus with increased urinary bladder cancer risk through analysis of eight case-control series (1,805 cases, 2,141 controls) plus meta-analysis of published data (13,395 cases, 54,876 controls). The combined meta-analysis showed an odds ratio of 1.19 (95% CI = 1.12-1.26, P < 0.0001), with stronger effects in individuals with high occupational exposure to bladder carcinogens.
About UGT1A10
This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]
View all UGT1A10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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