{
  "url": "https://dantelabs.com/hu/genes/slc24a5",
  "gene": {
    "slug": "slc24a5",
    "symbol": "SLC24A5",
    "name": "solute carrier family 24 member 5",
    "hgnc": "HGNC:20611",
    "summary": null,
    "location": "15q21.1",
    "locusType": "gene with protein product",
    "aliases": [
      "JSX",
      "OCA6",
      "NCKX5"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000188467",
    "entrezId": 283652,
    "omim": [
      "609802"
    ],
    "uniprot": [
      "Q71RS6"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 48120990,
      "end": 48142672,
      "strand": "+",
      "ensemblTranscript": "ENST00000341459.8",
      "refseqTranscript": "NM_205850.3",
      "ensemblProtein": "ENSP00000341550.3",
      "refseqProtein": "NP_995322.1",
      "exons": [
        {
          "start": 48120990,
          "end": 48121165
        },
        {
          "start": 48121857,
          "end": 48122036
        },
        {
          "start": 48134258,
          "end": 48134341
        },
        {
          "start": 48134435,
          "end": 48134538
        },
        {
          "start": 48134884,
          "end": 48134984
        },
        {
          "start": 48136683,
          "end": 48136963
        },
        {
          "start": 48138969,
          "end": 48139175
        },
        {
          "start": 48141113,
          "end": 48141214
        },
        {
          "start": 48142029,
          "end": 48142672
        }
      ],
      "cds": {
        "start": 48121045,
        "end": 48142351
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 48413169,
      "end": 48434869,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 47631831,
      "end": 48631830,
      "genes": [
        {
          "symbol": "SEMA6D",
          "ensemblId": "ENSG00000137872",
          "biotype": "protein_coding",
          "start": 47184079,
          "end": 47774228,
          "strand": "+",
          "slug": "sema6d"
        },
        {
          "symbol": "MYEF2",
          "ensemblId": "ENSG00000104177",
          "biotype": "protein_coding",
          "start": 48134632,
          "end": 48178375,
          "strand": "-",
          "slug": "myef2"
        },
        {
          "symbol": "CTXN2",
          "ensemblId": "ENSG00000233932",
          "biotype": "protein_coding",
          "start": 48177875,
          "end": 48203758,
          "strand": "+",
          "slug": "ctxn2"
        },
        {
          "symbol": "SLC12A1",
          "ensemblId": "ENSG00000074803",
          "biotype": "protein_coding",
          "start": 48178392,
          "end": 48304078,
          "strand": "+",
          "slug": "slc12a1"
        },
        {
          "symbol": "DUT",
          "ensemblId": "ENSG00000128951",
          "biotype": "protein_coding",
          "start": 48331011,
          "end": 48343373,
          "strand": "+",
          "slug": "dut"
        },
        {
          "symbol": "FBN1",
          "ensemblId": "ENSG00000166147",
          "biotype": "protein_coding",
          "start": 48408016,
          "end": 48645791,
          "strand": "-",
          "slug": "fbn1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "oculocutaneous-albinism",
        "name": "Oculocutaneous Albinism",
        "diseases": [
          {
            "mondoId": "MONDO:0018910",
            "name": "Oculocutaneous Albinism",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "Ambry Genetics",
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/hu/conditions/oculocutaneous-albinism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-foveal-morphology-on-macular-oct",
        "name": "Abnormal foveal morphology on macular OCT",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-foveal-morphology-on-macular-oct"
      },
      {
        "slug": "abnormal-fundus-morphology",
        "name": "Abnormal fundus morphology",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-fundus-morphology"
      },
      {
        "slug": "abnormal-iris-pigmentation",
        "name": "Abnormal iris pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-iris-pigmentation"
      },
      {
        "slug": "aplasia-hypoplasia-of-the-macula",
        "name": "Aplasia/Hypoplasia of the macula",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-macula"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "fair-hair",
        "name": "Fair hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/fair-hair"
      },
      {
        "slug": "generalized-hypopigmentation",
        "name": "Fair skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-hypopigmentation"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/visual-impairment"
      }
    ],
    "related": [
      {
        "slug": "dct",
        "symbol": "DCT",
        "name": "dopachrome tautomerase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/dct"
      },
      {
        "slug": "lrmda",
        "symbol": "LRMDA",
        "name": "leucine rich melanocyte differentiation associated",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/lrmda"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "name": "OCA2 melanosomal transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/oca2"
      },
      {
        "slug": "slc45a2",
        "symbol": "SLC45A2",
        "name": "solute carrier family 45 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/slc45a2"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "name": "tyrosinase",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tyr"
      },
      {
        "slug": "tyrp1",
        "symbol": "TYRP1",
        "name": "tyrosinase related protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/hu/genes/tyrp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}