Gene: SLC12A2

Alternate names for this Gene: BSC|BSC2|KILQS|NKCC1|PPP1R141

Gene Summary: The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5q23.3

Description of this Gene: solute carrier family 12 member 2

Type of Gene: protein-coding

Gene: LINC01184

Alternate names for this Gene:

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rs3812049 in SLC12A2;LINC01184 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs3812049 in SLC12A2;LINC01184 gene and Lymphocyte Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3812049 in SLC12A2;LINC01184 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3812049 in SLC12A2;LINC01184 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.