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Gene: SLC12A1 (solute carrier family 12 member 1) Homo sapiens
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Symbol: SLC12A1
Name: solute carrier family 12 member 1
Description: Predicted to have sodium:potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Localizes to the extracellular exosome. Implicated in Bartter disease and Bartter disease type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BSC1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; kidney-specific Na-K-Cl symporter; MGC48843; Na-K-2Cl cotransporter; NKCC2; NKCC2A variant A; solute carrier family 12 (sodium/potassium/chloride transporter), member 1; solute carrier family 12 (sodium/potassium/chloride transporters), member 1; solute carrier family 12, member 1
Orthologs:
Mus musculus (house mouse) : Slc12a1 (solute carrier family 12, member 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc12a1 (solute carrier family 12 member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc12a1 (solute carrier family 12 member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC12A1 (solute carrier family 12 member 1)
Canis lupus familiaris (dog) : SLC12A1 (solute carrier family 12 member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc12a1 (solute carrier family 12 member 1)
Sus scrofa (pig) : SLC12A1 (solute carrier family 12 member 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381548,206,302 - 48,304,078 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371548,498,498 - 48,596,275 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,285,790 - 46,383,567 (+)NCBINCBI36hg18NCBI36
Build 341546,287,189 - 46,382,417NCBI
Celera1525,391,005 - 25,488,781 (+)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1525,331,539 - 25,429,297 (+)NCBIHuRef
CHM1_11548,616,680 - 48,714,374 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC12A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 731943
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.