View SLC4A1 gene homepage

General information
Gene symbol SLC4A1
Gene name solute carrier family 4 member 1 (Diego blood group)
Chromosome 17
Chromosomal band q21.31
Imprinted Not imprinted
Genomic reference NG_007498.1
Transcript reference NM_000342.3, XM_005257593.3, XM_011525129.1, XM_011525130.1, XM_011525131.1
Associated with diseases dRTA, RTA
Citation reference(s) -
Curators (3) Savvas Nikolaou, Carsten W Lederer and Anastasia Raoukka
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created June 17, 2016
Date last updated June 23, 2016
Version SLC4A1:160623

Links to other resources
HGNC 11027
Entrez Gene 6521
PubMed articles SLC4A1
OMIM - Gene 109270
OMIM - Diseases dRTA (Distal Renal Tubular Acidosis)
RTA (Renal Tubular Acidosis)
HGMD SLC4A1
GeneCards SLC4A1
GeneTests SLC4A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000269 17 solute carrier family 4 (anion exchanger), member 1 (Diego blood group) NM_000342.3 NP_000333.1 0
00000270 17 solute carrier family 4 (anion exchanger), member 1 (Diego blood group), transcript variant X2 XM_005257593.3 XP_005257650.1 0
00000271 17 solute carrier family 4 (anion exchanger), member 1 (Diego blood group), transcript variant X1 XM_011525129.1 XP_011523431.1 0
00000272 17 solute carrier family 4 (anion exchanger), member 1 (Diego blood group), transcript variant X3 XM_011525130.1 XP_011523432.1 0
00000273 17 solute carrier family 4 (anion exchanger), member 1 (Diego blood group), transcript variant X4 XM_011525131.1 XP_011523433.1 0


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