The SLC12A1 gene homepage

General information
Gene symbol SLC12A1
Gene name solute carrier family 12 (sodium/potassium/chloride transporters), member 1
Chromosome 15
Chromosomal band q15-q21
Imprinted Unknown
Genomic reference NG_021301.1
Transcript reference NM_000338.2
Exon/intron information NM_000338.2 exon/intron table
Associated with diseases BARTS1, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 44
Unique public DNA variants reported 40
Individuals with public variants 14
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated April 13, 2021
Version SLC12A1:210413

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_000338.2.
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/SLC12A1
HGNC 10910
Entrez Gene 6557
PubMed articles SLC12A1
OMIM - Gene 600839
OMIM - Diseases BARTS1 (syndrome, Bartter, type 1 (BARTS1))
HGMD SLC12A1
GeneCards SLC12A1
GeneTests SLC12A1
Orphanet SLC12A1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00019098 15 transcript variant 1 NM_000338.2 NP_000329.2 44


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