The SLC4A1 gene homepage

General information
Gene symbol SLC4A1
Gene name solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)
Chromosome 17
Chromosomal band q21.31
Imprinted Unknown
Genomic reference NG_007498.1
Transcript reference NM_000342.3
Exon/intron information NM_000342.3 exon/intron table
Associated with diseases CHC, DI, FR, MLRS, RTADD, SAO, SPH, SPH4, SW, WD, WR, acidosis, tubular, renal, distal, with hemolytic anemia
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 106
Unique public DNA variants reported 83
Individuals with public variants 728
Hidden variants 26
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 07, 2023
Version SLC4A1:231207

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000342.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 11027
Entrez Gene 6521
PubMed articles SLC4A1
OMIM - Gene 109270
OMIM - Diseases CHC (cryohydrocytosis)
DI (blood group system, Diego system)
FR (blood group system, Froese)
MLRS (malaria, susceptibility to)
RTADD (acidosis, tubular, renal, distal, autosomal dominant (RTADD))
SAO (ovalocytosis, South Asian type (SAO))
SPH4 (spherocytosis, type 4 (SPH4))
SW (blood group system, Swann system (SW))
WD (blood group system, Waldner type (WD))
WR (blood group system, Wright antigen (WR))
acidosis, tubular, renal, distal, with hemolytic anemia
GeneCards SLC4A1
GeneTests SLC4A1
Orphanet SLC4A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00019010 17 solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) NM_000342.3 NP_000333.1 106

Copyright & disclaimer
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