Variant: rs1047976958 

    present in Gene: SLC22A12
    present in Chromosome: 11
    Position on Chromosome: 64599701
    Alleles of this Variant: G/A;C

rs1047976958 in SLC22A12 gene and Renal hypouricemia PMID 14694169 2004 Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion.

PMID 16837472 2007 Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.

PMID 26418379 2015 Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.

PMID 15327384 2004 A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese.

PMID 15912381 2005 Mutational analysis of idiopathic renal hypouricemia in Korea.

PMID 15634722 2005 Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia.

PMID 12024214 2002 Molecular identification of a renal urate anion exchanger that regulates blood urate levels.