{
  "url": "https://dantelabs.com/pt/genes/slc6a19",
  "gene": {
    "slug": "slc6a19",
    "symbol": "SLC6A19",
    "name": "solute carrier family 6 member 19",
    "hgnc": "HGNC:27960",
    "summary": null,
    "location": "5p15.33",
    "locusType": "gene with protein product",
    "aliases": [
      "B0AT1"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000174358",
    "entrezId": 340024,
    "omim": [
      "608893"
    ],
    "uniprot": [
      "Q695T7"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "5",
      "start": 1201595,
      "end": 1225111,
      "strand": "+",
      "ensemblTranscript": "ENST00000304460.11",
      "refseqTranscript": "NM_001003841.3",
      "ensemblProtein": "ENSP00000305302.10",
      "refseqProtein": "NP_001003841.1",
      "exons": [
        {
          "start": 1201595,
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        },
        {
          "start": 1208746,
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        },
        {
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        {
          "start": 1212303,
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        {
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        {
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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": 1201651,
        "end": 1221904
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "5",
      "start": 1201710,
      "end": 1225232,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 713353,
      "end": 1713352,
      "genes": [
        {
          "symbol": "ZDHHC11B",
          "ensemblId": "ENSG00000206077",
          "biotype": "protein_coding",
          "start": 710355,
          "end": 784729,
          "strand": "-",
          "slug": "zdhhc11b"
        },
        {
          "symbol": "ZDHHC11",
          "ensemblId": "ENSG00000188818",
          "biotype": "protein_coding",
          "start": 795605,
          "end": 858973,
          "strand": "-",
          "slug": "zdhhc11"
        },
        {
          "symbol": "BRD9",
          "ensemblId": "ENSG00000028310",
          "biotype": "protein_coding",
          "start": 850291,
          "end": 892838,
          "strand": "-",
          "slug": "brd9"
        },
        {
          "symbol": "TRIP13",
          "ensemblId": "ENSG00000071539",
          "biotype": "protein_coding",
          "start": 892849,
          "end": 919357,
          "strand": "+",
          "slug": "trip13"
        },
        {
          "symbol": "NKD2",
          "ensemblId": "ENSG00000145506",
          "biotype": "protein_coding",
          "start": 1008021,
          "end": 1040630,
          "strand": "+",
          "slug": "nkd2"
        },
        {
          "symbol": "SLC12A7",
          "ensemblId": "ENSG00000113504",
          "biotype": "protein_coding",
          "start": 1050384,
          "end": 1156237,
          "strand": "-",
          "slug": "slc12a7"
        },
        {
          "symbol": "SLC6A18",
          "ensemblId": "ENSG00000164363",
          "biotype": "protein_coding",
          "start": 1225381,
          "end": 1246189,
          "strand": "+",
          "slug": "slc6a18"
        },
        {
          "symbol": "TERT",
          "ensemblId": "ENSG00000164362",
          "biotype": "protein_coding",
          "start": 1253147,
          "end": 1295086,
          "strand": "-",
          "slug": "tert"
        },
        {
          "symbol": "CLPTM1L",
          "ensemblId": "ENSG00000049656",
          "biotype": "protein_coding",
          "start": 1316821,
          "end": 1345100,
          "strand": "-",
          "slug": "clptm1l"
        },
        {
          "symbol": "SLC6A3",
          "ensemblId": "ENSG00000142319",
          "biotype": "protein_coding",
          "start": 1392794,
          "end": 1445514,
          "strand": "-",
          "slug": "slc6a3"
        },
        {
          "symbol": "LPCAT1",
          "ensemblId": "ENSG00000153395",
          "biotype": "protein_coding",
          "start": 1456480,
          "end": 1524282,
          "strand": "-",
          "slug": "lpcat1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-urinary-color",
        "name": "Abnormal urinary color",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-urinary-color"
      },
      {
        "slug": "abnormality-of-vision",
        "name": "Abnormality of vision",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abnormality-of-vision"
      },
      {
        "slug": "anxiety",
        "name": "Anxiety",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/anxiety"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "attention-deficit-hyperactivity-disorder",
        "name": "Attention deficit",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder"
      },
      {
        "slug": "infectious-encephalitis",
        "name": "Brain inflammation",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/infectious-encephalitis"
      },
      {
        "slug": "emotional-lability",
        "name": "Can't control feelings",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/emotional-lability"
      },
      {
        "slug": "strabismus",
        "name": "Cross-eyed",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/strabismus"
      },
      {
        "slug": "delayed-speech-and-language-development",
        "name": "Delayed speech and language development",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/delayed-speech-and-language-development"
      },
      {
        "slug": "eeg-abnormality",
        "name": "EEG abnormality",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/eeg-abnormality"
      },
      {
        "slug": "hyperglycinemia",
        "name": "Elevated blood glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperglycinemia"
      },
      {
        "slug": "hydroxyprolinuria",
        "name": "Elevated urinary hydroxyproline",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hydroxyprolinuria"
      },
      {
        "slug": "elevated-urinary-indican-level",
        "name": "Elevated urinary indican level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-urinary-indican-level"
      },
      {
        "slug": "elevated-urinary-indoleacetic-acid-level",
        "name": "Elevated urinary indoleacetic acid level",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-urinary-indoleacetic-acid-level"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "episodic-ataxia",
        "name": "Episodic ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/episodic-ataxia"
      },
      {
        "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": "generalized-tonic-seizure",
        "name": "Generalized tonic seizure",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/generalized-tonic-seizure"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "hallucinations",
        "name": "Hallucinations",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hallucinations"
      },
      {
        "slug": "hydroxyprolinemia",
        "name": "High blood hydroxyproline levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hydroxyprolinemia"
      },
      {
        "slug": "hyperglycinuria",
        "name": "High urine glycine levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperglycinuria"
      },
      {
        "slug": "hyperprolinemia",
        "name": "Hyperprolinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/hyperprolinemia"
      },
      {
        "slug": "hyperreflexia",
        "name": "Increased reflexes",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperreflexia"
      },
      {
        "slug": "gingivitis",
        "name": "Inflamed gums",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gingivitis"
      },
      {
        "slug": "glossitis",
        "name": "Inflammation of the tongue",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/glossitis"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "irregular-hyperpigmentation",
        "name": "Irregular hyperpigmentation",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/irregular-hyperpigmentation"
      },
      {
        "slug": "hypotonia",
        "name": "Low muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypotonia"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "migraine",
        "name": "Migraine",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/migraine"
      },
      {
        "slug": "hyperactivity",
        "name": "More active than typical",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperactivity"
      },
      {
        "slug": "neutral-hyperaminoaciduria",
        "name": "Neutral hyperaminoaciduria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/neutral-hyperaminoaciduria"
      },
      {
        "slug": "hypopigmented-skin-patches",
        "name": "Patchy loss of skin color",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypopigmented-skin-patches"
      },
      {
        "slug": "cutaneous-photosensitivity",
        "name": "Photosensitive skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/cutaneous-photosensitivity"
      },
      {
        "slug": "prolinuria",
        "name": "Prolinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/prolinuria"
      },
      {
        "slug": "psychosis",
        "name": "Psychosis",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/psychosis"
      },
      {
        "slug": "short-stature",
        "name": "Short stature",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/short-stature"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "hypertonia",
        "name": "Spasticity and rigidity of muscles",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/hypertonia"
      },
      {
        "slug": "tremor",
        "name": "Tremor",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/tremor"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}