{
  "url": "https://dantelabs.com/sv/genes/slc45a1",
  "gene": {
    "slug": "slc45a1",
    "symbol": "SLC45A1",
    "name": "solute carrier family 45 member 1",
    "hgnc": "HGNC:17939",
    "summary": null,
    "location": "1p36.23",
    "locusType": "gene with protein product",
    "aliases": [],
    "previousSymbols": [
      "DNB5"
    ],
    "ensemblId": "ENSG00000162426",
    "entrezId": 50651,
    "omim": [
      "605763"
    ],
    "uniprot": [
      "Q9Y2W3"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "1",
      "start": 8318114,
      "end": 8344165,
      "strand": "+",
      "ensemblTranscript": "ENST00000471889.7",
      "refseqTranscript": "NM_001080397.3",
      "ensemblProtein": "ENSP00000418096.3",
      "refseqProtein": "NP_001073866.3",
      "exons": [
        {
          "start": 8318114,
          "end": 8318186
        },
        {
          "start": 8324306,
          "end": 8324726
        },
        {
          "start": 8325298,
          "end": 8325390
        },
        {
          "start": 8325818,
          "end": 8326042
        },
        {
          "start": 8330209,
          "end": 8330936
        },
        {
          "start": 8335437,
          "end": 8335590
        },
        {
          "start": 8337816,
          "end": 8337992
        },
        {
          "start": 8339493,
          "end": 8339698
        },
        {
          "start": 8343747,
          "end": 8344165
        }
      ],
      "cds": {
        "start": 8324330,
        "end": 8344013
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "1",
      "start": 8377886,
      "end": 8404227,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 7831140,
      "end": 8831139,
      "genes": [
        {
          "symbol": "PER3",
          "ensemblId": "ENSG00000049246",
          "biotype": "protein_coding",
          "start": 7784183,
          "end": 7845181,
          "strand": "+",
          "slug": "per3"
        },
        {
          "symbol": "UTS2",
          "ensemblId": "ENSG00000049247",
          "biotype": "protein_coding",
          "start": 7843008,
          "end": 7853512,
          "strand": "-",
          "slug": "uts2"
        },
        {
          "symbol": "TNFRSF9",
          "ensemblId": "ENSG00000049249",
          "biotype": "protein_coding",
          "start": 7915871,
          "end": 7943165,
          "strand": "-",
          "slug": "tnfrsf9"
        },
        {
          "symbol": "PARK7",
          "ensemblId": "ENSG00000116288",
          "biotype": "protein_coding",
          "start": 7952654,
          "end": 7985991,
          "strand": "+",
          "slug": "park7"
        },
        {
          "symbol": "ERRFI1",
          "ensemblId": "ENSG00000116285",
          "biotype": "protein_coding",
          "start": 8003196,
          "end": 8026318,
          "strand": "-",
          "slug": "errfi1"
        },
        {
          "symbol": "RERE",
          "ensemblId": "ENSG00000142599",
          "biotype": "protein_coding",
          "start": 8352397,
          "end": 8848921,
          "strand": "-",
          "slug": "rere"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "intellectual-disability",
        "name": "Intellektuell funktionsnedsättning",
        "diseases": [
          {
            "mondoId": "MONDO:0001071",
            "name": "intellektuell funktionsnedsättning",
            "genes": 233,
            "inheritance": null,
            "description": null,
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": true,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/sv/conditions/intellectual-disability"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "atypical-behavior",
        "name": "Behavioral abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/atypical-behavior"
      },
      {
        "slug": "thin-vermilion-border",
        "name": "Decreased volume of lip",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/thin-vermilion-border"
      },
      {
        "slug": "depressed-nasal-bridge",
        "name": "Depressed nasal bridge",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/depressed-nasal-bridge"
      },
      {
        "slug": "downslanted-palpebral-fissures",
        "name": "Downward slanting of the opening between the eyelids",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "highly-arched-eyebrow",
        "name": "Highly arched eyebrow",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/highly-arched-eyebrow"
      },
      {
        "slug": "moderate-intellectual-disability",
        "name": "IQ between 34 and 49",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/moderate-intellectual-disability"
      },
      {
        "slug": "obsessive-compulsive-trait",
        "name": "Obsessive-compulsive trait",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/obsessive-compulsive-trait"
      },
      {
        "slug": "smooth-philtrum",
        "name": "Smooth philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/smooth-philtrum"
      },
      {
        "slug": "triangular-face",
        "name": "Triangular face",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/triangular-face"
      },
      {
        "slug": "hypertelorism",
        "name": "Wide-set eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypertelorism"
      }
    ],
    "related": [
      {
        "slug": "acsl4",
        "symbol": "ACSL4",
        "name": "acyl-CoA synthetase long chain family member 4",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/acsl4"
      },
      {
        "slug": "adk",
        "symbol": "ADK",
        "name": "adenosine kinase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adk"
      },
      {
        "slug": "adnp",
        "symbol": "ADNP",
        "name": "activity dependent neuroprotector homeobox",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/adnp"
      },
      {
        "slug": "aff2",
        "symbol": "AFF2",
        "name": "ALF transcription elongation factor 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/aff2"
      },
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "name": "AT-hook DNA binding motif containing 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ahdc1"
      },
      {
        "slug": "alkbh8",
        "symbol": "ALKBH8",
        "name": "alkB homolog 8, tRNA methyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/alkbh8"
      },
      {
        "slug": "ank3",
        "symbol": "ANK3",
        "name": "ankyrin 3",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ank3"
      },
      {
        "slug": "ankrd11",
        "symbol": "ANKRD11",
        "name": "ankyrin repeat domain 11",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ankrd11"
      },
      {
        "slug": "ap1s2",
        "symbol": "AP1S2",
        "name": "adaptor related protein complex 1 subunit sigma 2",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap1s2"
      },
      {
        "slug": "ap2m1",
        "symbol": "AP2M1",
        "name": "adaptor related protein complex 2 subunit mu 1",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/ap2m1"
      },
      {
        "slug": "arhgef9",
        "symbol": "ARHGEF9",
        "name": "Cdc42 guanine nucleotide exchange factor 9",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arhgef9"
      },
      {
        "slug": "arid1a",
        "symbol": "ARID1A",
        "name": "AT-rich interaction domain 1A",
        "shared": 1,
        "url": "https://dantelabs.com/sv/genes/arid1a"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}