rs1165205
This is a intron variant variant in the SLC17A3 gene.
▶Research that mentions this SNP (1)
▶The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean populationAssociationN=2,359Chang-Nam Son et al.(2014)· Rheumatology International
A two-part genetic association study in Korean populations examining SNP associations with serum uric acid (SUA) concentration. Study 1 compared minor allele frequencies of 40 SNPs associated with SUA across Korean, Japanese, and European descent populations in 1,957 subjects. Study 2 analyzed associations in 402 RA patients, finding rs12734001 (PPP1R12B) most significantly associated with SUA levels (P_trend = 2.29 × 10^-9) and rs3741414 (INHBC) with P_trend = 0.01. Results showed Korean SNP frequencies were more similar to Japanese than European populations.
About SLC17A3
The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
View all SLC17A3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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