{
  "url": "https://dantelabs.com/el/genes/slc52a1",
  "gene": {
    "slug": "slc52a1",
    "symbol": "SLC52A1",
    "name": "solute carrier family 52 member 1",
    "hgnc": "HGNC:30225",
    "summary": null,
    "location": "17p13.2",
    "locusType": "gene with protein product",
    "aliases": [
      "FLJ10060",
      "GPCR42",
      "PAR2",
      "hRFT1",
      "RFVT1"
    ],
    "previousSymbols": [
      "GPR172B"
    ],
    "ensemblId": "ENSG00000132517",
    "entrezId": 55065,
    "omim": [
      "607883"
    ],
    "uniprot": [
      "Q9NWF4"
    ],
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      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 5032602,
      "end": 5035426,
      "strand": "-",
      "ensemblTranscript": "ENST00000254853.10",
      "refseqTranscript": "NM_017986.4",
      "ensemblProtein": "ENSP00000254853.5",
      "refseqProtein": "NP_060456.3",
      "exons": [
        {
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        {
          "start": 5033261,
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        {
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        {
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      ],
      "cds": {
        "start": 5032957,
        "end": 5034606
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
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      "end": 4955304,
      "strand": "-"
    },
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        },
        {
          "symbol": "MYBBP1A",
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        {
          "symbol": "GGT6",
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        },
        {
          "symbol": "SMTNL2",
          "ensemblId": "ENSG00000188176",
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        {
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        {
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        {
          "symbol": "ARRB2",
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        {
          "symbol": "MED11",
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          "symbol": "CXCL16",
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        {
          "symbol": "ZMYND15",
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          "slug": "zmynd15"
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        {
          "symbol": "TM4SF5",
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        {
          "symbol": "VMO1",
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        {
          "symbol": "GLTPD2",
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        {
          "symbol": "PSMB6",
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        {
          "symbol": "C17orf114",
          "ensemblId": "ENSG00000262165",
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        {
          "symbol": "PLD2",
          "ensemblId": "ENSG00000129219",
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        {
          "symbol": "MINK1",
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        {
          "symbol": "CHRNE",
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          "biotype": "protein_coding",
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          "slug": "chrne"
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        {
          "symbol": "C17orf107",
          "ensemblId": "ENSG00000205710",
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        {
          "symbol": "GP1BA",
          "ensemblId": "ENSG00000185245",
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          "slug": "gp1ba"
        },
        {
          "symbol": "SLC25A11",
          "ensemblId": "ENSG00000108528",
          "biotype": "protein_coding",
          "start": 4934570,
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          "strand": "-",
          "slug": "slc25a11"
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        {
          "symbol": "RNF167",
          "ensemblId": "ENSG00000108523",
          "biotype": "protein_coding",
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          "slug": "rnf167"
        },
        {
          "symbol": "PFN1",
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        {
          "symbol": "ENO3",
          "ensemblId": "ENSG00000108515",
          "biotype": "protein_coding",
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          "slug": "eno3"
        },
        {
          "symbol": "SPAG7",
          "ensemblId": "ENSG00000091640",
          "biotype": "protein_coding",
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          "strand": "-",
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        },
        {
          "symbol": "CAMTA2",
          "ensemblId": "ENSG00000108509",
          "biotype": "protein_coding",
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          "strand": "-",
          "slug": "camta2"
        },
        {
          "symbol": "INCA1",
          "ensemblId": "ENSG00000196388",
          "biotype": "protein_coding",
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          "slug": "inca1"
        },
        {
          "symbol": "KIF1C",
          "ensemblId": "ENSG00000129250",
          "biotype": "protein_coding",
          "start": 4997629,
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          "slug": "kif1c"
        },
        {
          "symbol": "ZFP3",
          "ensemblId": "ENSG00000180787",
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          "slug": "zfp3"
        },
        {
          "symbol": "ZNF232",
          "ensemblId": "ENSG00000167840",
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          "slug": "znf232"
        },
        {
          "symbol": "USP6",
          "ensemblId": "ENSG00000129204",
          "biotype": "protein_coding",
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        {
          "symbol": "ZNF594",
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        {
          "symbol": "SCIMP",
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        },
        {
          "symbol": "RABEP1",
          "ensemblId": "ENSG00000029725",
          "biotype": "protein_coding",
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          "slug": "rabep1"
        },
        {
          "symbol": "NUP88",
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          "biotype": "protein_coding",
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        },
        {
          "symbol": "RPAIN",
          "ensemblId": "ENSG00000129197",
          "biotype": "protein_coding",
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          "slug": "rpain"
        },
        {
          "symbol": "C1QBP",
          "ensemblId": "ENSG00000108561",
          "biotype": "protein_coding",
          "start": 5432625,
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          "slug": "c1qbp"
        },
        {
          "symbol": "DHX33",
          "ensemblId": "ENSG00000005100",
          "biotype": "protein_coding",
          "start": 5440917,
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          "slug": "dhx33"
        },
        {
          "symbol": "DERL2",
          "ensemblId": "ENSG00000072849",
          "biotype": "protein_coding",
          "start": 5471254,
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          "strand": "-",
          "slug": "derl2"
        },
        {
          "symbol": "MIS12",
          "ensemblId": "ENSG00000167842",
          "biotype": "protein_coding",
          "start": 5486285,
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          "slug": "mis12"
        },
        {
          "symbol": "NLRP1",
          "ensemblId": "ENSG00000091592",
          "biotype": "protein_coding",
          "start": 5499415,
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          "strand": "-",
          "slug": "nlrp1"
        },
        {
          "symbol": "SMIM48",
          "ensemblId": "ENSG00000286190",
          "biotype": "protein_coding",
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          "end": 5501013,
          "strand": "-",
          "slug": "smim48"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "elevated-circulating-fatty-acylcarnitine-concentration",
        "name": "Elevated circulating fatty acylcarnitine concentration",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-fatty-acylcarnitine-concentration"
      },
      {
        "slug": "elevated-urinary-dicarboxylic-acid-level",
        "name": "Elevated urinary dicarboxylic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-dicarboxylic-acid-level"
      },
      {
        "slug": "hypothermia",
        "name": "Hypothermia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypothermia"
      },
      {
        "slug": "lactic-acidosis",
        "name": "Increased lactate in body",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lactic-acidosis"
      },
      {
        "slug": "lethargy",
        "name": "Lethargy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/lethargy"
      },
      {
        "slug": "hypoglycemia",
        "name": "Low blood sugar",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hypoglycemia"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "metabolic-acidosis",
        "name": "Metabolic acidosis",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/metabolic-acidosis"
      },
      {
        "slug": "poor-suck",
        "name": "Poor suck",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/poor-suck"
      },
      {
        "slug": "decreased-circulating-vitamin-b2-concentration",
        "name": "Vitamin B2 deficiency",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-circulating-vitamin-b2-concentration"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}