Gene
SLC12A1
solute carrier family 12 member 1
- HGNC 10910(opens in a new tab)
- Ensembl gene ENSG00000074803(opens in a new tab)
- NCBI Gene 6557(opens in a new tab)
Summary
- Cytogenetic location
- 15q21.1
- Coordinates
- Chromosome 15: 48,206,302–48,304,078 (GRCh38)
- Exons
- 27 exons across 97.8 kb
- Protein
- 1,099 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- NKCC2, CCC2, BSC1, BSC, BSC-1
- MANE Select transcript
- ENST00000380993.8NM_000338.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Bartter Disease
- Bartter Disease Type 1Autosomal recessive
- 3 GenCC submitters rate it definitive or strong
- Bartter Syndrome
A group of inherited salt-wasting kidney tubule disorders, caused by genes such as SLC12A1, KCNJ1, CLCNKB, BSND and CASR, with low potassium, metabolic alkalosis and high urine calcium.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing guides salt and potassium replacement and monitoring of growth and kidney calcification.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SLC12A1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.7 kb of the gene's 97.8 kb; 3,300 of those bases code for the protein.
How a genome test reads SLC12A1
69
positions in SLC12A1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 97.8 kb of SLC12A1, introns included, not only the 4.7 kb of exons.
Traits linked to SLC12A1
The Human Phenotype Ontology lists these as features of the rare conditions SLC12A1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SLC12A1 gene: solute carrier family 12 member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc12a1
Dante Labs. SLC12A1 gene: solute carrier family 12 member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc12a1
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