SLC24A1 Chromosome 15
Solute carrier family 24 member 1
Upload your DNA to see your personal genotypes for variants in SLC24A1.
What This Gene Does
This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Solute carrier family 24
Locus Type
gene with protein product
Location
15q22.31
Ensembl
ENSG00000074621
Associated Conditions (9)
Congenital stationary night blindness 1D
Inborn genetic diseases
SLC24A1-related disorder
Moyamoya angiopathy
Retinal dystrophy
Colorectal cancer
Retinitis pigmentosa
Malignant tumor of urinary bladder
Congenital stationary night blindness autosomal dominant 2
Key Variants
RS117685425
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
Health Risk
RS139757342
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
Health Risk
RS146253044
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
Health Risk
RS181942192
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
Health Risk
RS185027365
Conflicting classifications of pathogenicity
Health Risk
RS199504782
Conflicting classifications of pathogenicity
Health Risk
RS201199381
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
Health Risk
RS201943537
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Inborn genetic diseases, SLC24A1-related disorder
Health Risk
RS202035723
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS35398714
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Inborn genetic diseases, Congenital stationary night blindness 1D
Health Risk
RS368057501
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, SLC24A1-related disorder, Congenital stationary night blindness 1D
Health Risk
RS368241269
Conflicting classifications of pathogenicity
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
Health Risk
All Variants (61)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS763957405 | Health Risk | Pathogenic | — |
| RS766780281 | Health Risk | Pathogenic | Congenital stationary night blindness 1D, Congenital stationary night blindness 1D |
| RS767036519 | Health Risk | Pathogenic | — |
| RS774410891 | Health Risk | Pathogenic | — |
| RS774536190 | Health Risk | Pathogenic | — |
| RS775927007 | Health Risk | Pathogenic | — |
| RS974693995 | Health Risk | Pathogenic | — |
| RS1566947860 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS200047855 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS762665302 | Health Risk | Pathogenic/Likely pathogenic | Congenital stationary night blindness 1D, Congenital stationary night blindness 1D |
| RS777989874 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Congenital stationary night blindness 1D, Retinal dystrophy |