SLC24A5 Chromosome 15
Solute carrier family 24 member 5
Upload your DNA to see your personal genotypes for variants in SLC24A5.
What This Gene Does
This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 24
Locus Type
gene with protein product
Location
15q21.1
Ensembl
ENSG00000188467
Associated Conditions (8)
Skin/hair/eye pigmentation
variation in
4
SLC24A5-related disorder
Oculocutaneous albinism type 6
Inborn genetic diseases
Oculocutaneous albinism
Uveal melanoma
Key Variants
RS1426654
association
Skin/hair/eye pigmentation, variation in, 4
Health Risk
RS886037642
association
Skin/hair/eye pigmentation, variation in, 4
Health Risk
RS1057517995
Conflicting classifications of pathogenicity
Health Risk
RS138902406
Conflicting classifications of pathogenicity
SLC24A5-related disorder, SLC24A5-related disorder
Health Risk
RS146726548
Conflicting classifications of pathogenicity
Health Risk
RS150379789
Conflicting classifications of pathogenicity
Health Risk
RS192454382
Conflicting classifications of pathogenicity
Health Risk
RS199924625
Conflicting classifications of pathogenicity
Health Risk
RS2038684395
Likely pathogenic
Oculocutaneous albinism type 6, Oculocutaneous albinism type 6
Health Risk
RS2039119852
Likely pathogenic
Health Risk
RS2140740334
Likely pathogenic
Health Risk
RS2504568018
Likely pathogenic
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1426654 | Health Risk | association | Skin/hair/eye pigmentation, variation in, 4 |
| RS886037642 | Health Risk | association | Skin/hair/eye pigmentation, variation in, 4 |
| RS1057517995 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138902406 | Health Risk | Conflicting classifications of pathogenicity | SLC24A5-related disorder, SLC24A5-related disorder |
| RS146726548 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150379789 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS192454382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199924625 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2038684395 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 6, Oculocutaneous albinism type 6 |
| RS2039119852 | Health Risk | Likely pathogenic | — |
| RS2140740334 | Health Risk | Likely pathogenic | — |
| RS2504568018 | Health Risk | Likely pathogenic | — |
| RS2504592443 | Health Risk | Likely pathogenic | — |
| RS2504595149 | Health Risk | Likely pathogenic | — |
| RS757960224 | Health Risk | Likely pathogenic | — |
| RS886037644 | Health Risk | Likely pathogenic | Oculocutaneous albinism type 6, Oculocutaneous albinism type 6 |
| RS1047344623 | Health Risk | Pathogenic | — |
| RS1217469928 | Health Risk | Pathogenic | — |
| RS1359277013 | Health Risk | Pathogenic | — |
| RS142056637 | Health Risk | Pathogenic | — |
| RS147601285 | Health Risk | Pathogenic | — |
| RS1555452572 | Health Risk | Pathogenic | Oculocutaneous albinism type 6, Oculocutaneous albinism type 6 |
| RS1555452574 | Health Risk | Pathogenic | Oculocutaneous albinism type 6, Oculocutaneous albinism type 6 |
| RS1597259095 | Health Risk | Pathogenic | — |
| RS2038684134 | Health Risk | Pathogenic | — |
| RS2140701678 | Health Risk | Pathogenic | — |
| RS2140754731 | Health Risk | Pathogenic | — |
| RS2504567974 | Health Risk | Pathogenic | — |
| RS2504569305 | Health Risk | Pathogenic | — |
| RS2504597755 | Health Risk | Pathogenic | Oculocutaneous albinism type 6, Oculocutaneous albinism type 6 |
| RS2504598048 | Health Risk | Pathogenic | — |
| RS2504627688 | Health Risk | Pathogenic | — |
| RS530184161 | Health Risk | Pathogenic | — |
| RS752602941 | Health Risk | Pathogenic | — |
| RS753732275 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS772398324 | Health Risk | Pathogenic | Oculocutaneous albinism type 6, SLC24A5-related disorder, Oculocutaneous albinism type 6 |
| RS779087076 | Health Risk | Pathogenic | — |
| RS886037643 | Health Risk | Pathogenic | Oculocutaneous albinism type 6, Oculocutaneous albinism type 6 |
| RS977118193 | Health Risk | Pathogenic | Skin/hair/eye pigmentation, variation in, 4 |
| RS1343931250 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1450652793 | Health Risk | Pathogenic/Likely pathogenic | Oculocutaneous albinism, Uveal melanoma, Oculocutaneous albinism |
| RS372932575 | Health Risk | Pathogenic/Likely pathogenic | — |