{
  "url": "https://dantelabs.com/el/genes/slc24a1",
  "gene": {
    "slug": "slc24a1",
    "symbol": "SLC24A1",
    "name": "solute carrier family 24 member 1",
    "hgnc": "HGNC:10975",
    "summary": null,
    "location": "15q22.31",
    "locusType": "gene with protein product",
    "aliases": [
      "NCKX1",
      "NCKX",
      "RODX",
      "KIAA0702",
      "HsT17412",
      "CSNB1D"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000074621",
    "entrezId": 9187,
    "omim": [
      "603617"
    ],
    "uniprot": [
      "O60721"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "15",
      "start": 65621938,
      "end": 65656260,
      "strand": "+",
      "ensemblTranscript": "ENST00000261892.11",
      "refseqTranscript": "NM_004727.3",
      "ensemblProtein": "ENSP00000261892.6",
      "refseqProtein": "NP_004718.1",
      "exons": [
        {
          "start": 65621938,
          "end": 65622092
        },
        {
          "start": 65623955,
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        },
        {
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        },
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        },
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        },
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        },
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        }
      ],
      "cds": {
        "start": 65624081,
        "end": 65654079
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "15",
      "start": 65903704,
      "end": 65953333,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 65139099,
      "end": 66139098,
      "genes": [
        {
          "symbol": "CLPX",
          "ensemblId": "ENSG00000166855",
          "biotype": "protein_coding",
          "start": 65148219,
          "end": 65185643,
          "strand": "-",
          "slug": "clpx"
        },
        {
          "symbol": "CILP",
          "ensemblId": "ENSG00000138615",
          "biotype": "protein_coding",
          "start": 65194760,
          "end": 65211491,
          "strand": "-",
          "slug": "cilp"
        },
        {
          "symbol": "PARP16",
          "ensemblId": "ENSG00000138617",
          "biotype": "protein_coding",
          "start": 65231398,
          "end": 65300618,
          "strand": "-",
          "slug": "parp16"
        },
        {
          "symbol": "IGDCC3",
          "ensemblId": "ENSG00000174498",
          "biotype": "protein_coding",
          "start": 65327127,
          "end": 65378087,
          "strand": "-",
          "slug": "igdcc3"
        },
        {
          "symbol": "IGDCC4",
          "ensemblId": "ENSG00000103742",
          "biotype": "protein_coding",
          "start": 65381479,
          "end": 65423083,
          "strand": "-",
          "slug": "igdcc4"
        },
        {
          "symbol": "DPP8",
          "ensemblId": "ENSG00000074603",
          "biotype": "protein_coding",
          "start": 65442463,
          "end": 65517757,
          "strand": "-",
          "slug": "dpp8"
        },
        {
          "symbol": "HACD3",
          "ensemblId": "ENSG00000074696",
          "biotype": "protein_coding",
          "start": 65530418,
          "end": 65578353,
          "strand": "+",
          "slug": "hacd3"
        },
        {
          "symbol": "INTS14",
          "ensemblId": "ENSG00000138614",
          "biotype": "protein_coding",
          "start": 65578753,
          "end": 65611615,
          "strand": "-",
          "slug": "ints14"
        },
        {
          "symbol": "DENND4A",
          "ensemblId": "ENSG00000174485",
          "biotype": "protein_coding",
          "start": 65658046,
          "end": 65792307,
          "strand": "-",
          "slug": "dennd4a"
        },
        {
          "symbol": "RAB11A",
          "ensemblId": "ENSG00000103769",
          "biotype": "protein_coding",
          "start": 65726054,
          "end": 65894232,
          "strand": "+",
          "slug": "rab11a"
        },
        {
          "symbol": "MEGF11",
          "ensemblId": "ENSG00000157890",
          "biotype": "protein_coding",
          "start": 65895079,
          "end": 66253811,
          "strand": "-",
          "slug": "megf11"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "congenital-stationary-night-blindness",
        "name": "Εκ γενετής στατική νυχτερινή τύφλωση",
        "diseases": [
          {
            "mondoId": "MONDO:0016293",
            "name": "Εκ γενετής στατική νυχτερινή τύφλωση",
            "genes": 16,
            "inheritance": null,
            "description": "Μια ομάδα κυρίως μη προοδευτικών παθήσεων του αμφιβληστροειδούς, συμπεριλαμβανομένης της νόσου Oguchi, που προκαλείται από αλλαγές σε γονίδια όπως τα NYX, CACNA1F, TRPM1, GRM6, GPR179 και SAG, συχνά με νυσταγμό ή μυωπία.",
            "management": "Μια γενετική διάγνωση εξηγεί τα συμπτώματα, βοηθά στη διάκριση της πάθησης από προοδευτικές νόσους του αμφιβληστροειδούς και καθοδηγεί τη γενετική συμβουλευτική για την οικογένεια.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/el/conditions/congenital-stationary-night-blindness"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "early-onset-non-progressive-night-blindness",
        "name": "Night blindness since birth",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/early-onset-non-progressive-night-blindness"
      }
    ],
    "related": [
      {
        "slug": "cabp4",
        "symbol": "CABP4",
        "name": "calcium binding protein 4",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cabp4"
      },
      {
        "slug": "cacna1f",
        "symbol": "CACNA1F",
        "name": "calcium voltage-gated channel subunit alpha1 F",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/cacna1f"
      },
      {
        "slug": "gnat1",
        "symbol": "GNAT1",
        "name": "G protein subunit alpha transducin 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gnat1"
      },
      {
        "slug": "gnb3",
        "symbol": "GNB3",
        "name": "G protein subunit beta 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gnb3"
      },
      {
        "slug": "gpr179",
        "symbol": "GPR179",
        "name": "G protein-coupled receptor 179",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gpr179"
      },
      {
        "slug": "grk1",
        "symbol": "GRK1",
        "name": "G protein-coupled receptor kinase 1",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/grk1"
      },
      {
        "slug": "grm6",
        "symbol": "GRM6",
        "name": "glutamate metabotropic receptor 6",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/grm6"
      },
      {
        "slug": "gucy2d",
        "symbol": "GUCY2D",
        "name": "guanylate cyclase 2D, retinal",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/gucy2d"
      },
      {
        "slug": "lrit3",
        "symbol": "LRIT3",
        "name": "leucine rich repeat, Ig-like and transmembrane domains 3",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/lrit3"
      },
      {
        "slug": "nyx",
        "symbol": "NYX",
        "name": "nyctalopin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/nyx"
      },
      {
        "slug": "pde6b",
        "symbol": "PDE6B",
        "name": "phosphodiesterase 6B",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/pde6b"
      },
      {
        "slug": "rho",
        "symbol": "RHO",
        "name": "rhodopsin",
        "shared": 1,
        "url": "https://dantelabs.com/el/genes/rho"
      }
    ],
    "sources": {
      "bundleId": "2026.10.19-9814e911",
      "panel": "2026-10-19",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}