Gene
SLC24A1
solute carrier family 24 member 1
- HGNC 10975↗(opens in a new tab)
- Ensembl gene ENSG00000074621↗(opens in a new tab)
- NCBI Gene 9187↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q22.31
- Coordinates
- Chromosome 15: 65,621,938–65,656,260 (GRCh38)
- Exons
- 10 exons across 34.3 kb
- Protein
- 1,099 amino acids
- Also known as
- NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D
- MANE Select transcript
- ENST00000261892.11NM_004727.3
- 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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Get my Genome TestCurated report relevant to this gene
Congenital Stationary Night Blindness
A group of mostly non-progressive retinal conditions, including Oguchi disease, caused by changes in genes such as NYX, CACNA1F, TRPM1, GRM6, GPR179 and SAG, often with nystagmus or short-sightedness.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
A genetic diagnosis explains the symptoms, helps distinguish the condition from progressive retinal diseases and informs family counselling.
How SLC24A1 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 5.8 kb of the gene's 34.3 kb; 3,300 of those bases code for the protein.
How a genome test reads SLC24A1
12
positions in SLC24A1 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 34.3 kb of SLC24A1, introns included, not only the 5.8 kb of exons.
Genes linked to the same conditions
- CABP4calcium binding protein 4Shares 1 condition
- CACNA1Fcalcium voltage-gated channel subunit alpha1 FShares 1 condition
- GNAT1G protein subunit alpha transducin 1Shares 1 condition
- GNB3G protein subunit beta 3Shares 1 condition
- GPR179G protein-coupled receptor 179Shares 1 condition
- GRK1G protein-coupled receptor kinase 1Shares 1 condition
- GRM6glutamate metabotropic receptor 6Shares 1 condition
- GUCY2Dguanylate cyclase 2D, retinalShares 1 condition
- LRIT3leucine rich repeat, Ig-like and transmembrane domains 3Shares 1 condition
- NYXnyctalopinShares 1 condition
- PDE6Bphosphodiesterase 6BShares 1 condition
- RHOrhodopsinShares 1 condition
Traits linked to SLC24A1
The Human Phenotype Ontology lists these as features of the rare conditions SLC24A1 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.). SLC24A1 gene: solute carrier family 24 member 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc24a1
Dante Labs. SLC24A1 gene: solute carrier family 24 member 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc24a1
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