{
  "url": "https://dantelabs.com/sv/genes/slc45a2",
  "gene": {
    "slug": "slc45a2",
    "symbol": "SLC45A2",
    "name": "solute carrier family 45 member 2",
    "hgnc": "HGNC:16472",
    "summary": null,
    "location": "5p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "AIM-1",
      "OCA4"
    ],
    "previousSymbols": [
      "MATP"
    ],
    "ensemblId": "ENSG00000164175",
    "entrezId": 51151,
    "omim": [
      "606202"
    ],
    "uniprot": [
      "Q9UMX9"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 33944623,
      "end": 33984693,
      "strand": "-",
      "ensemblTranscript": "ENST00000296589.9",
      "refseqTranscript": "NM_016180.5",
      "ensemblProtein": "ENSP00000296589.4",
      "refseqProtein": "NP_057264.4",
      "exons": [
        {
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          "end": 33944872
        },
        {
          "start": 33947163,
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        },
        {
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        {
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        {
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        }
      ],
      "cds": {
        "start": 33944648,
        "end": 33984583
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 33944721,
      "end": 33984835,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
      "start": 33464658,
      "end": 34464657,
      "genes": [
        {
          "symbol": "TARS1",
          "ensemblId": "ENSG00000113407",
          "biotype": "protein_coding",
          "start": 33440696,
          "end": 33471929,
          "strand": "+",
          "slug": "tars1"
        },
        {
          "symbol": "ADAMTS12",
          "ensemblId": "ENSG00000151388",
          "biotype": "protein_coding",
          "start": 33523535,
          "end": 33892113,
          "strand": "-",
          "slug": "adamts12"
        },
        {
          "symbol": "RXFP3",
          "ensemblId": "ENSG00000182631",
          "biotype": "protein_coding",
          "start": 33936386,
          "end": 33938918,
          "strand": "+",
          "slug": "rxfp3"
        },
        {
          "symbol": "AMACR",
          "ensemblId": "ENSG00000242110",
          "biotype": "protein_coding",
          "start": 33986165,
          "end": 34010219,
          "strand": "-",
          "slug": "amacr"
        },
        {
          "symbol": "C1QTNF3-AMACR",
          "ensemblId": "ENSG00000273294",
          "biotype": "protein_coding",
          "start": 33987174,
          "end": 34124528,
          "strand": "-",
          "slug": "c1qtnf3-amacr"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000289791",
          "biotype": "protein_coding",
          "start": 33997007,
          "end": 34008084,
          "strand": "-"
        },
        {
          "symbol": "C1QTNF3",
          "ensemblId": "ENSG00000082196",
          "biotype": "protein_coding",
          "start": 34017858,
          "end": 34043238,
          "strand": "-",
          "slug": "c1qtnf3"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000215156",
          "biotype": "protein_coding",
          "start": 34190156,
          "end": 34193653,
          "strand": "+"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "oculocutaneous-albinism",
        "name": "Okulokutan albinism",
        "diseases": [
          {
            "mondoId": "MONDO:0018910",
            "name": "Okulokutan 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/sv/conditions/oculocutaneous-albinism"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-retinal-pigmentation",
        "name": "Abnormal retinal pigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation"
      },
      {
        "slug": "ocular-albinism",
        "name": "Absent pigmentation in the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/ocular-albinism"
      },
      {
        "slug": "albinism",
        "name": "Albinism",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/albinism"
      },
      {
        "slug": "blue-irides",
        "name": "Blue eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/blue-irides"
      },
      {
        "slug": "reduced-visual-acuity",
        "name": "Decreased clarity of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "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": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "fundus-hypopigmentation",
        "name": "Fundus hypopigmentation",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/fundus-hypopigmentation"
      },
      {
        "slug": "hypoplasia-of-the-fovea",
        "name": "Hypoplasia of the fovea",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoplasia-of-the-fovea"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "very-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": "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-hypoplasia",
        "name": "Macular hypoplasia",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/macular-hypoplasia"
      },
      {
        "slug": "nevus",
        "name": "Mole",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/nevus"
      },
      {
        "slug": "optic-nerve-misrouting",
        "name": "Optic nerve misrouting",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/optic-nerve-misrouting"
      },
      {
        "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": "neoplasm-of-the-skin",
        "name": "Skin cancer",
        "systems": [
          "abnormality-of-the-integument",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/neoplasm-of-the-skin"
      },
      {
        "slug": "thickened-skin",
        "name": "Thickened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thickened-skin"
      },
      {
        "slug": "visual-impairment",
        "name": "Visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/visual-impairment"
      },
      {
        "slug": "white-hair",
        "name": "White hair",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/white-hair"
      }
    ],
    "related": [
      {
        "slug": "dct",
        "symbol": "DCT",
        "name": "dopachrome tautomerase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/dct"
      },
      {
        "slug": "lrmda",
        "symbol": "LRMDA",
        "name": "leucine rich melanocyte differentiation associated",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/lrmda"
      },
      {
        "slug": "oca2",
        "symbol": "OCA2",
        "name": "OCA2 melanosomal transmembrane protein",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/oca2"
      },
      {
        "slug": "slc24a5",
        "symbol": "SLC24A5",
        "name": "solute carrier family 24 member 5",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/slc24a5"
      },
      {
        "slug": "tyr",
        "symbol": "TYR",
        "name": "tyrosinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/tyr"
      },
      {
        "slug": "tyrp1",
        "symbol": "TYRP1",
        "name": "tyrosinase related protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/tyrp1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.16-c6eea6bf",
      "panel": "2026-10-16",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}