{
  "url": "https://dantelabs.com/no/genes/tyrp1",
  "gene": {
    "slug": "tyrp1",
    "symbol": "TYRP1",
    "name": "tyrosinase related protein 1",
    "hgnc": "HGNC:12450",
    "summary": null,
    "location": "9p23",
    "locusType": "gene with protein product",
    "aliases": [
      "GP75",
      "CATB",
      "TRP",
      "b-PROTEIN",
      "OCA3"
    ],
    "previousSymbols": [
      "TYRP",
      "CAS2"
    ],
    "ensemblId": "ENSG00000107165",
    "entrezId": 7306,
    "omim": [
      "115501"
    ],
    "uniprot": [
      "P17643"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 12693385,
      "end": 12710285,
      "strand": "+",
      "ensemblTranscript": "ENST00000388918.10",
      "refseqTranscript": "NM_000550.3",
      "ensemblProtein": "ENSP00000373570.4",
      "refseqProtein": "NP_000541.1",
      "exons": [
        {
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        },
        {
          "start": 12693912,
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        },
        {
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        {
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        },
        {
          "start": 12702271,
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        },
        {
          "start": 12704526,
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        },
        {
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        {
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      ],
      "cds": {
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        "end": 12709182
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
      "start": 12685439,
      "end": 12710290,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 12201835,
      "end": 13201834,
      "genes": [
        {
          "symbol": "LURAP1L",
          "ensemblId": "ENSG00000153714",
          "biotype": "protein_coding",
          "start": 12775005,
          "end": 12823060,
          "strand": "+",
          "slug": "lurap1l"
        },
        {
          "symbol": "MPDZ",
          "ensemblId": "ENSG00000107186",
          "biotype": "protein_coding",
          "start": 13100471,
          "end": 13279790,
          "strand": "-",
          "slug": "mpdz"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "oculocutaneous-albinism",
        "name": "Okulokutan albinisme",
        "diseases": [
          {
            "mondoId": "MONDO:0018910",
            "name": "Okulokutan albinisme",
            "genes": 7,
            "inheritance": "autosomal-recessive",
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/no/conditions/oculocutaneous-albinism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-iris-pigmentation",
        "name": "Abnormal iris pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/abnormal-iris-pigmentation"
      },
      {
        "slug": "abnormal-skin-pigmentation",
        "name": "Abnormal skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation"
      },
      {
        "slug": "abnormality-of-hair-pigmentation",
        "name": "Abnormality of hair pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/abnormality-of-hair-pigmentation"
      },
      {
        "slug": "absent-skin-pigmentation",
        "name": "Absent skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/absent-skin-pigmentation"
      },
      {
        "slug": "albinism",
        "name": "Albinism",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/albinism"
      },
      {
        "slug": "blue-irides",
        "name": "Blue eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blue-irides"
      },
      {
        "slug": "blue-nevus",
        "name": "Blue nevus",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/blue-nevus"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "freckling",
        "name": "Freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/freckling"
      },
      {
        "slug": "generalized-hypopigmentation-of-hair",
        "name": "Generalized hypopigmentation of hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/generalized-hypopigmentation-of-hair"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "optic-nerve-misrouting",
        "name": "Optic nerve misrouting",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/optic-nerve-misrouting"
      },
      {
        "slug": "partial-albinism",
        "name": "Partial absent skin pigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/partial-albinism"
      },
      {
        "slug": "hypopigmentation-of-the-skin",
        "name": "Patchy lightened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-the-skin"
      },
      {
        "slug": "red-hair",
        "name": "Red hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/red-hair"
      },
      {
        "slug": "white-eyebrow",
        "name": "White eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/white-eyebrow"
      },
      {
        "slug": "white-eyelashes",
        "name": "White eyelashes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/white-eyelashes"
      }
    ],
    "related": [
      {
        "slug": "dct",
        "symbol": "DCT",
        "name": "dopachrome tautomerase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/dct"
      },
      {
        "slug": "lrmda",
        "symbol": "LRMDA",
        "name": "leucine rich melanocyte differentiation associated",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/lrmda"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "name": "OCA2 melanosomal transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/oca2"
      },
      {
        "slug": "slc24a5",
        "symbol": "SLC24A5",
        "name": "solute carrier family 24 member 5",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/slc24a5"
      },
      {
        "slug": "slc45a2",
        "symbol": "SLC45A2",
        "name": "solute carrier family 45 member 2",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/slc45a2"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "name": "tyrosinase",
        "shared": 1,
        "url": "https://dantelabs.com/no/genes/tyr"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}