UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC12A1
HGNC Symbol:SLC12A1
HGNC Description:solute carrier family 12 (sodium/potassium/chloride transporter), member 1
HGNC ID:10910
Chromosome:Chr.15(+): 48498498-48596275 GRCh37
OMIM Phenotype:Bartter syndrome, antenatal, type 1
Nucleotide RefSeq:NM_000338
Protein RefSeq:NP_000329
PharmGKB ID:PA320
HPRD ID:02908
Trivial Names:BSC1, NKCC2
Transcripts:NM_000338.2 [Chr.15(+): 48498498-48596275 GRCh37]
NM_001184832.1 [Chr.15(+): 48498498-48596275 GRCh37]
XM_005254606.1 [Chr.15(+): 48498498-48596275 GRCh37]
XM_005254605.1 [Chr.15(+): 48498498-48596275 GRCh37]
ENST00000330289 [Chr.15(+): 48499731-48529546 GRCh37]
ENST00000380993 [Chr.15(+): 48498498-48596273 GRCh37]
ENST00000396577 [Chr.15(+): 48498499-48596275 GRCh37]
ENST00000558252 [Chr.15(+): 48514525-48596273 GRCh37]
ENST00000558405 [Chr.15(+): 48499903-48595194 GRCh37]
ENST00000558805 [Chr.15(+): 48524922-48527541 GRCh37]
ENST00000559641 [Chr.15(+): 48483962-48577324 GRCh37]
ENST00000559723 [Chr.15(+): 48518048-48527122 GRCh37]
ENST00000560692 [Chr.15(+): 48516523-48596275 GRCh37]
ENST00000561031 [Chr.15(+): 48499917-48513642 GRCh37]
ENST00000561127 [Chr.15(+): 48483861-48522627 GRCh37]
Annotation History:View Events (19)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Expression values:
No expression data exists for SLC12A1.

Variant Data

View all PMT variants for SLC12A1 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.