{
  "url": "https://dantelabs.com/no/genes/slc31a1",
  "gene": {
    "slug": "slc31a1",
    "symbol": "SLC31A1",
    "name": "solute carrier family 31 member 1",
    "hgnc": "HGNC:11016",
    "summary": null,
    "location": "9q32",
    "locusType": "gene with protein product",
    "aliases": [
      "hCTR1",
      "CTR1"
    ],
    "previousSymbols": [
      "COPT1"
    ],
    "ensemblId": "ENSG00000136868",
    "entrezId": 1317,
    "omim": [
      "603085"
    ],
    "uniprot": [
      "O15431"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "9",
      "start": 113221544,
      "end": 113264492,
      "strand": "+",
      "ensemblTranscript": "ENST00000374212.5",
      "refseqTranscript": "NM_001859.4",
      "ensemblProtein": "ENSP00000363329.4",
      "refseqProtein": "NP_001850.1",
      "exons": [
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          "end": 113221678
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        {
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      "cds": {
        "start": 113256149,
        "end": 113260473
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "9",
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      "end": 116028674,
      "strand": "+"
    },
    "neighbourhood": {
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        {
          "symbol": "SNX30",
          "ensemblId": "ENSG00000148158",
          "biotype": "protein_coding",
          "start": 112750724,
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          "strand": "+",
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        },
        {
          "symbol": "SLC46A2",
          "ensemblId": "ENSG00000119457",
          "biotype": "protein_coding",
          "start": 112878920,
          "end": 112890919,
          "strand": "-",
          "slug": "slc46a2"
        },
        {
          "symbol": "ZNF883",
          "ensemblId": "ENSG00000228623",
          "biotype": "protein_coding",
          "start": 112988129,
          "end": 113012242,
          "strand": "-",
          "slug": "znf883"
        },
        {
          "symbol": "ZFP37",
          "ensemblId": "ENSG00000136866",
          "biotype": "protein_coding",
          "start": 113038377,
          "end": 113056802,
          "strand": "-",
          "slug": "zfp37"
        },
        {
          "symbol": "SLC31A2",
          "ensemblId": "ENSG00000136867",
          "biotype": "protein_coding",
          "start": 113150951,
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          "strand": "+",
          "slug": "slc31a2"
        },
        {
          "symbol": "FKBP15",
          "ensemblId": "ENSG00000119321",
          "biotype": "protein_coding",
          "start": 113161006,
          "end": 113221458,
          "strand": "-",
          "slug": "fkbp15"
        },
        {
          "symbol": "CDC26",
          "ensemblId": "ENSG00000176386",
          "biotype": "protein_coding",
          "start": 113223011,
          "end": 113275602,
          "strand": "-",
          "slug": "cdc26"
        },
        {
          "symbol": "PRPF4",
          "ensemblId": "ENSG00000136875",
          "biotype": "protein_coding",
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          "end": 113295342,
          "strand": "+",
          "slug": "prpf4"
        },
        {
          "symbol": "RNF183",
          "ensemblId": "ENSG00000165188",
          "biotype": "protein_coding",
          "start": 113297093,
          "end": 113303376,
          "strand": "-",
          "slug": "rnf183"
        },
        {
          "symbol": "WDR31",
          "ensemblId": "ENSG00000148225",
          "biotype": "protein_coding",
          "start": 113313222,
          "end": 113340337,
          "strand": "-",
          "slug": "wdr31"
        },
        {
          "symbol": "BSPRY",
          "ensemblId": "ENSG00000119411",
          "biotype": "protein_coding",
          "start": 113349515,
          "end": 113371233,
          "strand": "+",
          "slug": "bspry"
        },
        {
          "symbol": "HDHD3",
          "ensemblId": "ENSG00000119431",
          "biotype": "protein_coding",
          "start": 113373215,
          "end": 113377473,
          "strand": "-",
          "slug": "hdhd3"
        },
        {
          "symbol": "ALAD",
          "ensemblId": "ENSG00000148218",
          "biotype": "protein_coding",
          "start": 113386304,
          "end": 113401356,
          "strand": "-",
          "slug": "alad"
        },
        {
          "symbol": "POLE3",
          "ensemblId": "ENSG00000148229",
          "biotype": "protein_coding",
          "start": 113407232,
          "end": 113410723,
          "strand": "-",
          "slug": "pole3"
        },
        {
          "symbol": "C9orf43",
          "ensemblId": "ENSG00000157653",
          "biotype": "protein_coding",
          "start": 113410054,
          "end": 113429690,
          "strand": "+",
          "slug": "c9orf43"
        },
        {
          "symbol": "RGS3",
          "ensemblId": "ENSG00000138835",
          "biotype": "protein_coding",
          "start": 113444731,
          "end": 113597743,
          "strand": "+",
          "slug": "rgs3"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "cerebral-visual-impairment",
        "name": "Cerebral visual impairment",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-visual-impairment"
      },
      {
        "slug": "talipes-equinovarus",
        "name": "Club feet",
        "systems": [
          "abnormality-of-limbs"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/talipes-equinovarus"
      },
      {
        "slug": "pneumothorax",
        "name": "Collapsed lung",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pneumothorax"
      },
      {
        "slug": "decreased-csf-copper-concentration",
        "name": "Decreased CSF copper concentration",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-csf-copper-concentration"
      },
      {
        "slug": "cerebellar-atrophy",
        "name": "Degeneration of cerebellum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebellar-atrophy"
      },
      {
        "slug": "cerebral-atrophy",
        "name": "Degeneration of cerebrum",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cerebral-atrophy"
      },
      {
        "slug": "delayed-ability-to-roll-over",
        "name": "Delayed ability to roll over",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-ability-to-roll-over"
      },
      {
        "slug": "enlarged-cisterna-magna",
        "name": "Enlarged cisterna magna",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/enlarged-cisterna-magna"
      },
      {
        "slug": "cardiomegaly",
        "name": "Enlarged heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cardiomegaly"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "focal-impaired-awareness-seizure",
        "name": "Focal impaired awareness seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/focal-impaired-awareness-seizure"
      },
      {
        "slug": "glanular-hypospadias",
        "name": "Glanular hypospadias",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/glanular-hypospadias"
      },
      {
        "slug": "increased-circulating-lactate-concentration",
        "name": "Higher than normal levels of lactate in blood",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-lactate-concentration"
      },
      {
        "slug": "increased-csf-lactate",
        "name": "Increased CSF lactate",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-csf-lactate"
      },
      {
        "slug": "limb-hypertonia",
        "name": "Increased muscle tone of arm or leg",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/limb-hypertonia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "axial-hypotonia",
        "name": "Low muscle tone in trunk",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/axial-hypotonia"
      },
      {
        "slug": "persistent-head-lag",
        "name": "Persistent head lag",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/persistent-head-lag"
      },
      {
        "slug": "pulmonary-hypoplasia",
        "name": "Poorly developed lungs",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/pulmonary-hypoplasia"
      },
      {
        "slug": "short-tibia",
        "name": "Short shinbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-tibia"
      },
      {
        "slug": "short-femur",
        "name": "Short thighbone",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/short-femur"
      },
      {
        "slug": "temperature-instability",
        "name": "Temperature instability",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/temperature-instability"
      },
      {
        "slug": "thickened-nuchal-skin-fold",
        "name": "Thickened skin folds of neck",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-prenatal-development-or-birth"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/thickened-nuchal-skin-fold"
      },
      {
        "slug": "tricuspid-regurgitation",
        "name": "Tricuspid regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/tricuspid-regurgitation"
      },
      {
        "slug": "ventriculomegaly",
        "name": "Ventriculomegaly",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/ventriculomegaly"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}