Variant: rs1203164637 

    present in Gene: SLC4A4
    present in Chromosome: 4
    Position on Chromosome: 71557721
    Alleles of this Variant: C/T

rs1203164637 in SLC4A4 gene and Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation PMID 15930088 2005 Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.

PMID 15713912 2005 Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis.

PMID 15471865 2004 A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.

PMID 10545938 1999 Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

PMID 17661077 2008 Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.

PMID 16636648 2006 Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).