{
  "url": "https://dantelabs.com/fi/genes/mc1r",
  "gene": {
    "slug": "mc1r",
    "symbol": "MC1R",
    "name": "melanocortin 1 receptor",
    "hgnc": "HGNC:6929",
    "summary": null,
    "location": "16q24.3",
    "locusType": "gene with protein product",
    "aliases": [
      "MSH-R"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000258839",
    "entrezId": 4157,
    "omim": [
      "155555"
    ],
    "uniprot": [
      "Q01726"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "16",
      "start": 89918862,
      "end": 89920972,
      "strand": "+",
      "ensemblTranscript": "ENST00000555147.2",
      "refseqTranscript": "NM_002386.4",
      "ensemblProtein": "ENSP00000451605.1",
      "refseqProtein": "NP_002377.4",
      "exons": [
        {
          "start": 89918862,
          "end": 89920972
        }
      ],
      "cds": {
        "start": 89919259,
        "end": 89920212
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 89978527,
      "end": 89987385,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 89419917,
      "end": 90419916,
      "genes": [
        {
          "symbol": "ANKRD11",
          "ensemblId": "ENSG00000167522",
          "biotype": "protein_coding",
          "start": 89267619,
          "end": 89490706,
          "strand": "-",
          "slug": "ankrd11"
        },
        {
          "symbol": "SPG7",
          "ensemblId": "ENSG00000197912",
          "biotype": "protein_coding",
          "start": 89490719,
          "end": 89557768,
          "strand": "+",
          "slug": "spg7"
        },
        {
          "symbol": "RPL13",
          "ensemblId": "ENSG00000167526",
          "biotype": "protein_coding",
          "start": 89560637,
          "end": 89567834,
          "strand": "+",
          "slug": "rpl13"
        },
        {
          "symbol": "CPNE7",
          "ensemblId": "ENSG00000178773",
          "biotype": "protein_coding",
          "start": 89575730,
          "end": 89597247,
          "strand": "+",
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        },
        {
          "symbol": "DPEP1",
          "ensemblId": "ENSG00000015413",
          "biotype": "protein_coding",
          "start": 89613308,
          "end": 89638456,
          "strand": "+",
          "slug": "dpep1"
        },
        {
          "symbol": "CHMP1A",
          "ensemblId": "ENSG00000131165",
          "biotype": "protein_coding",
          "start": 89640816,
          "end": 89657738,
          "strand": "-",
          "slug": "chmp1a"
        },
        {
          "symbol": "SPATA33",
          "ensemblId": "ENSG00000167523",
          "biotype": "protein_coding",
          "start": 89657740,
          "end": 89671287,
          "strand": "+",
          "slug": "spata33"
        },
        {
          "symbol": "CDK10",
          "ensemblId": "ENSG00000185324",
          "biotype": "protein_coding",
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          "end": 89696372,
          "strand": "+",
          "slug": "cdk10"
        },
        {
          "symbol": "SPATA2L",
          "ensemblId": "ENSG00000158792",
          "biotype": "protein_coding",
          "start": 89696357,
          "end": 89701733,
          "strand": "-",
          "slug": "spata2l"
        },
        {
          "symbol": "VPS9D1",
          "ensemblId": "ENSG00000075399",
          "biotype": "protein_coding",
          "start": 89707128,
          "end": 89721879,
          "strand": "-",
          "slug": "vps9d1"
        },
        {
          "symbol": "ZNF276",
          "ensemblId": "ENSG00000158805",
          "biotype": "protein_coding",
          "start": 89720400,
          "end": 89740925,
          "strand": "+",
          "slug": "znf276"
        },
        {
          "symbol": "FANCA",
          "ensemblId": "ENSG00000187741",
          "biotype": "protein_coding",
          "start": 89726683,
          "end": 89816977,
          "strand": "-",
          "slug": "fanca"
        },
        {
          "symbol": "SPIRE2",
          "ensemblId": "ENSG00000204991",
          "biotype": "protein_coding",
          "start": 89818179,
          "end": 89871320,
          "strand": "+",
          "slug": "spire2"
        },
        {
          "symbol": "TCF25",
          "ensemblId": "ENSG00000141002",
          "biotype": "protein_coding",
          "start": 89873214,
          "end": 89913627,
          "strand": "+",
          "slug": "tcf25"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000198211",
          "biotype": "protein_coding",
          "start": 89919165,
          "end": 89936092,
          "strand": "+"
        },
        {
          "symbol": "TUBB3",
          "ensemblId": "ENSG00000258947",
          "biotype": "protein_coding",
          "start": 89921392,
          "end": 89938761,
          "strand": "+",
          "slug": "tubb3"
        },
        {
          "symbol": "DEF8",
          "ensemblId": "ENSG00000140995",
          "biotype": "protein_coding",
          "start": 89948014,
          "end": 89968079,
          "strand": "+",
          "slug": "def8"
        },
        {
          "symbol": "DBNDD1",
          "ensemblId": "ENSG00000003249",
          "biotype": "protein_coding",
          "start": 90004648,
          "end": 90019890,
          "strand": "-",
          "slug": "dbndd1"
        },
        {
          "symbol": "DRC4",
          "ensemblId": "ENSG00000141013",
          "biotype": "protein_coding",
          "start": 90019629,
          "end": 90045369,
          "strand": "+",
          "slug": "drc4"
        },
        {
          "symbol": "PRDM7",
          "ensemblId": "ENSG00000126856",
          "biotype": "protein_coding",
          "start": 90056566,
          "end": 90092072,
          "strand": "-",
          "slug": "prdm7"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "abnormality-of-extrapyramidal-motor-function",
        "name": "Abnormality of extrapyramidal motor function",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function"
      },
      {
        "slug": "abnormality-of-refraction",
        "name": "Abnormality of refraction",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-refraction"
      },
      {
        "slug": "abnormal-hair-morphology",
        "name": "Abnormality of the hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormal-hair-morphology"
      },
      {
        "slug": "abnormality-of-the-lymphatic-system",
        "name": "Abnormality of the lymphatic system",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-the-lymphatic-system"
      },
      {
        "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": "basal-cell-carcinoma",
        "name": "Basal cell carcinoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/basal-cell-carcinoma"
      },
      {
        "slug": "blue-irides",
        "name": "Blue eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/blue-irides"
      },
      {
        "slug": "neoplasm-of-the-breast",
        "name": "Breast tumor",
        "systems": [
          "abnormality-of-the-breast",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-breast"
      },
      {
        "slug": "melanoma",
        "name": "Cancer of skin pigment cells",
        "systems": [
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/melanoma"
      },
      {
        "slug": "neoplasm-of-the-pancreas",
        "name": "Cancer of the pancreas",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-pancreas"
      },
      {
        "slug": "myopia",
        "name": "Close sighted",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/myopia"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "cutaneous-melanoma",
        "name": "Cutaneous melanoma",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/cutaneous-melanoma"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/reduced-visual-acuity"
      },
      {
        "slug": "heterochromia-iridis",
        "name": "Different colored eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/heterochromia-iridis"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "freckles-in-sun-exposed-areas",
        "name": "Freckles in sun-exposed areas",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/freckles-in-sun-exposed-areas"
      },
      {
        "slug": "freckling",
        "name": "Freckling",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/freckling"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "hyperpigmented-nevi",
        "name": "Hyperpigmented nevi",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/hyperpigmented-nevi"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "iris-transillumination-defect",
        "name": "Iris transillumination defect",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-transillumination-defect"
      },
      {
        "slug": "iris-hypopigmentation",
        "name": "Light eye color",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iris-hypopigmentation"
      },
      {
        "slug": "hypopigmentation-of-hair",
        "name": "Loss of hair color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypopigmentation-of-hair"
      },
      {
        "slug": "macular-hypopigmentation",
        "name": "Macular hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/macular-hypopigmentation"
      },
      {
        "slug": "nevus",
        "name": "Mole",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/nevus"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "optic-nerve-misrouting",
        "name": "Optic nerve misrouting",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-misrouting"
      },
      {
        "slug": "exotropia",
        "name": "Outward facing eye ball",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/exotropia"
      },
      {
        "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": "posterior-staphyloma",
        "name": "Posterior staphyloma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/posterior-staphyloma"
      },
      {
        "slug": "red-hair",
        "name": "Red hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/red-hair"
      },
      {
        "slug": "squamous-cell-carcinoma-of-the-skin",
        "name": "Squamous cell carcinoma of the skin",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/squamous-cell-carcinoma-of-the-skin"
      },
      {
        "slug": "neoplasm-of-the-stomach",
        "name": "Stomach tumor",
        "systems": [
          "abnormality-of-the-digestive-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-stomach"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "white-eyebrow",
        "name": "White eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "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"
      },
      {
        "slug": "white-hair",
        "name": "White hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/white-hair"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}