The SLC4A4 gene homepage

General information
Gene symbol SLC4A4
Gene name solute carrier family 4, sodium bicarbonate cotransporter, member 4
Chromosome 4
Chromosomal band q13.3
Imprinted Unknown
Genomic reference NG_012653.1
Transcript reference NM_001098484.2
Exon/intron information NM_001098484.2 exon/intron table
Associated with diseases acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Mark Parker
Total number of public variants reported 67
Unique public DNA variants reported 42
Individuals with public variants 29
Hidden variants 3
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated September 17, 2021
Version SLC4A4:210917

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_001098484.2.
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 https://www.LOVD.nl/SLC4A4
HGNC 11030
Entrez Gene 8671
PubMed articles SLC4A4
OMIM - Gene 603345
OMIM - Diseases acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation
HGMD SLC4A4
GeneCards SLC4A4
GeneTests SLC4A4
Orphanet SLC4A4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024277 4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4, transcript variant 1 NM_001098484.2 NP_001091954.1 67


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