{
  "url": "https://dantelabs.com/no/genes/ppp1r17",
  "gene": {
    "slug": "ppp1r17",
    "symbol": "PPP1R17",
    "name": "protein phosphatase 1 regulatory subunit 17",
    "hgnc": "HGNC:16973",
    "summary": null,
    "location": "7p14.3",
    "locusType": "gene with protein product",
    "aliases": [
      "GSBS"
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    "previousSymbols": [
      "C7orf16"
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    "ensemblId": "ENSG00000106341",
    "entrezId": 10842,
    "omim": [
      "604088"
    ],
    "uniprot": [
      "O96001"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "7",
      "start": 31687215,
      "end": 31708455,
      "strand": "+",
      "ensemblTranscript": "ENST00000342032.8",
      "refseqTranscript": "NM_006658.5",
      "ensemblProtein": "ENSP00000340125.3",
      "refseqProtein": "NP_006649.2",
      "exons": [
        {
          "start": 31687215,
          "end": 31687306
        },
        {
          "start": 31692406,
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        },
        {
          "start": 31695469,
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        },
        {
          "start": 31696965,
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        },
        {
          "start": 31707204,
          "end": 31708455
        }
      ],
      "cds": {
        "start": 31692442,
        "end": 31707283
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "7",
      "start": 31726329,
      "end": 31748069,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 31197835,
      "end": 32197834,
      "genes": [
        {
          "symbol": "NEUROD6",
          "ensemblId": "ENSG00000164600",
          "biotype": "protein_coding",
          "start": 31337066,
          "end": 31340901,
          "strand": "-",
          "slug": "neurod6"
        },
        {
          "symbol": "ITPRID1",
          "ensemblId": "ENSG00000180347",
          "biotype": "protein_coding",
          "start": 31514090,
          "end": 31656504,
          "strand": "+",
          "slug": "itprid1"
        },
        {
          "symbol": "PDE1C",
          "ensemblId": "ENSG00000154678",
          "biotype": "protein_coding",
          "start": 31615753,
          "end": 32428131,
          "strand": "-",
          "slug": "pde1c"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "corneal-arcus",
        "name": "Corneal arcus",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/corneal-arcus"
      },
      {
        "slug": "xanthelasma",
        "name": "Fatty deposits in skin around the eyes",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/xanthelasma"
      },
      {
        "slug": "elevated-circulating-ldl-c-concentration",
        "name": "Increased circulating LDL level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/elevated-circulating-ldl-c-concentration"
      },
      {
        "slug": "coronary-artery-atherosclerosis",
        "name": "Plaque build-up in arteries supplying blood to heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/coronary-artery-atherosclerosis"
      },
      {
        "slug": "tendon-xanthomatosis",
        "name": "Tendon xanthomatosis",
        "systems": [
          "abnormality-of-the-integument",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tendon-xanthomatosis"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}