Variant: rs121912748 

    present in Gene: SLC4A1
    present in Chromosome: 17
    Position on Chromosome: 44253327
    Alleles of this Variant: C/T

rs121912748 in SLC4A1 gene and RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (disorder) PMID 9854053 1998 Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

PMID 15211439 2004 Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.

PMID 10926824 2000 Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.