{
  "url": "https://dantelabs.com/ko/genes/slc35a1",
  "gene": {
    "slug": "slc35a1",
    "symbol": "SLC35A1",
    "name": "solute carrier family 35 member A1",
    "hgnc": "HGNC:11021",
    "summary": null,
    "location": "6q15",
    "locusType": "gene with protein product",
    "aliases": [
      "CMPST",
      "hCST",
      "CMP-Sia-Tr"
    ],
    "previousSymbols": [],
    "ensemblId": "ENSG00000164414",
    "entrezId": 10559,
    "omim": [
      "605634"
    ],
    "uniprot": [
      "P78382"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "6",
      "start": 87472974,
      "end": 87512336,
      "strand": "+",
      "ensemblTranscript": "ENST00000369552.9",
      "refseqTranscript": "NM_006416.5",
      "ensemblProtein": "ENSP00000358565.4",
      "refseqProtein": "NP_006407.1",
      "exons": [
        {
          "start": 87472974,
          "end": 87473019
        },
        {
          "start": 87477362,
          "end": 87477539
        },
        {
          "start": 87500508,
          "end": 87500667
        },
        {
          "start": 87501158,
          "end": 87501310
        },
        {
          "start": 87506382,
          "end": 87506448
        },
        {
          "start": 87508420,
          "end": 87508596
        },
        {
          "start": 87509041,
          "end": 87509175
        },
        {
          "start": 87511399,
          "end": 87512336
        }
      ],
      "cds": {
        "start": 87473004,
        "end": 87511526
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "6",
      "start": 88180341,
      "end": 88222054,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 86992655,
      "end": 87992654,
      "genes": [
        {
          "symbol": "HTR1E",
          "ensemblId": "ENSG00000168830",
          "biotype": "protein_coding",
          "start": 86936662,
          "end": 87019942,
          "strand": "+",
          "slug": "htr1e"
        },
        {
          "symbol": "CGA",
          "ensemblId": "ENSG00000135346",
          "biotype": "protein_coding",
          "start": 87085495,
          "end": 87095150,
          "strand": "-",
          "slug": "cga"
        },
        {
          "symbol": "ZNF292",
          "ensemblId": "ENSG00000188994",
          "biotype": "protein_coding",
          "start": 87151803,
          "end": 87300928,
          "strand": "+",
          "slug": "znf292"
        },
        {
          "symbol": "GJB7",
          "ensemblId": "ENSG00000164411",
          "biotype": "protein_coding",
          "start": 87282980,
          "end": 87329278,
          "strand": "-",
          "slug": "gjb7"
        },
        {
          "symbol": "SMIM8",
          "ensemblId": "ENSG00000111850",
          "biotype": "protein_coding",
          "start": 87322559,
          "end": 87401050,
          "strand": "+",
          "slug": "smim8"
        },
        {
          "symbol": "C6orf163",
          "ensemblId": "ENSG00000203872",
          "biotype": "protein_coding",
          "start": 87344813,
          "end": 87365463,
          "strand": "+",
          "slug": "c6orf163"
        },
        {
          "symbol": "CFAP206",
          "ensemblId": "ENSG00000272514",
          "biotype": "protein_coding",
          "start": 87407966,
          "end": 87464678,
          "strand": "+",
          "slug": "cfap206"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000213204",
          "biotype": "protein_coding",
          "start": 87408012,
          "end": 87511634,
          "strand": "+"
        },
        {
          "symbol": "RARS2",
          "ensemblId": "ENSG00000146282",
          "biotype": "protein_coding",
          "start": 87513459,
          "end": 87590028,
          "strand": "-",
          "slug": "rars2"
        },
        {
          "symbol": "ORC3",
          "ensemblId": "ENSG00000135336",
          "biotype": "protein_coding",
          "start": 87590067,
          "end": 87681796,
          "strand": "+",
          "slug": "orc3"
        },
        {
          "symbol": "AKIRIN2",
          "ensemblId": "ENSG00000135334",
          "biotype": "protein_coding",
          "start": 87674860,
          "end": 87702275,
          "strand": "-",
          "slug": "akirin2"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "disorder-of-glycosylation",
        "name": "선천性 당화 장애",
        "diseases": [
          {
            "mondoId": "MONDO:0015286",
            "name": "선천성 당화 장애(CDG)",
            "genes": 98,
            "inheritance": null,
            "description": "당사슬(당질)이 단백질과 지질에 올바르게 만들어지거나 결합되지 않아 발생하는 유전성 질환의 큰 집단으로, 주로 뇌, 간, 혈액 응고, 성장 및 기타 여러 신체 계통에 영향을 줍니다. 대부분은 상염색체 열성 유전이지만, 일부는 X 연관 또는 상염색체 우성 유전입니다.",
            "management": null,
            "evidence": {
              "gencc": [
                "G2P",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Moderate",
              "acmgSf": false,
              "inheritance": [
                "autosomal-recessive"
              ]
            },
            "sameAsReport": false,
            "broad": true
          }
        ],
        "url": "https://dantelabs.com/ko/conditions/disorder-of-glycosylation"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abnormal-megakaryocyte-morphology",
        "name": "Abnormal megakaryocyte morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-megakaryocyte-morphology"
      },
      {
        "slug": "abnormal-platelet-granules",
        "name": "Abnormal platelet granules",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-platelet-granules"
      },
      {
        "slug": "aminoaciduria",
        "name": "Abnormal urinary amino-acid findings",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/aminoaciduria"
      },
      {
        "slug": "hypotelorism",
        "name": "Abnormally close eyes",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/hypotelorism"
      },
      {
        "slug": "microcephaly",
        "name": "Abnormally small head",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/microcephaly"
      },
      {
        "slug": "aortic-regurgitation",
        "name": "Aortic regurgitation",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/aortic-regurgitation"
      },
      {
        "slug": "ataxia",
        "name": "Ataxia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/ataxia"
      },
      {
        "slug": "cellulitis",
        "name": "Bacterial infection of skin",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/cellulitis"
      },
      {
        "slug": "subcutaneous-hemorrhage",
        "name": "Bleeding below the skin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/subcutaneous-hemorrhage"
      },
      {
        "slug": "abnormal-bleeding",
        "name": "Bleeding tendency",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-bleeding"
      },
      {
        "slug": "respiratory-distress",
        "name": "Breathing difficulties",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/respiratory-distress"
      },
      {
        "slug": "clinodactyly",
        "name": "Curvature of digit",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/clinodactyly"
      },
      {
        "slug": "decreased-platelet-glycoprotein-ib",
        "name": "Decreased platelet glycoprotein Ib",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/decreased-platelet-glycoprotein-ib"
      },
      {
        "slug": "hyporeflexia",
        "name": "Decreased reflex response",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/hyporeflexia"
      },
      {
        "slug": "deeply-set-eye",
        "name": "Deeply set eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/deeply-set-eye"
      },
      {
        "slug": "dysarthria",
        "name": "Difficulty articulating speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/dysarthria"
      },
      {
        "slug": "encephalopathy",
        "name": "Encephalopathy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/encephalopathy"
      },
      {
        "slug": "seizure",
        "name": "Epilepsy",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/seizure"
      },
      {
        "slug": "flat-occiput",
        "name": "Flat back of skull",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flat-occiput"
      },
      {
        "slug": "generalized-hypotonia",
        "name": "Generalized decreased muscle tone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/generalized-hypotonia"
      },
      {
        "slug": "giant-platelets",
        "name": "Giant platelets",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/giant-platelets"
      },
      {
        "slug": "global-developmental-delay",
        "name": "Global developmental delay",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/global-developmental-delay"
      },
      {
        "slug": "proteinuria",
        "name": "High urine protein levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/proteinuria"
      },
      {
        "slug": "intellectual-disability",
        "name": "Intellectual disability",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/intellectual-disability"
      },
      {
        "slug": "nystagmus",
        "name": "Involuntary, rapid, rhythmic eye movements",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/nystagmus"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypoxemia",
        "name": "Low blood oxygen level",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hypoxemia"
      },
      {
        "slug": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "macrothrombocytopenia",
        "name": "Macrothrombocytopenia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "url": "https://dantelabs.com/traits/macrothrombocytopenia"
      },
      {
        "slug": "orofacial-dyskinesia",
        "name": "Orofacial dyskinesia",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/orofacial-dyskinesia"
      },
      {
        "slug": "pneumonia",
        "name": "Pneumonia",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pneumonia"
      },
      {
        "slug": "poor-speech",
        "name": "Poor speech",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "url": "https://dantelabs.com/traits/poor-speech"
      },
      {
        "slug": "prolonged-bleeding-time",
        "name": "Prolonged bleeding time",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/prolonged-bleeding-time"
      },
      {
        "slug": "pulmonary-hemorrhage",
        "name": "Pulmonary hemorrhage",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/pulmonary-hemorrhage"
      },
      {
        "slug": "recurrent-bacterial-infections",
        "name": "Recurrent bacterial infections",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-bacterial-infections"
      },
      {
        "slug": "short-philtrum",
        "name": "Short philtrum",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/short-philtrum"
      },
      {
        "slug": "webbed-neck",
        "name": "Webbed neck",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/webbed-neck"
      }
    ],
    "related": [
      {
        "slug": "a4galt",
        "symbol": "A4GALT",
        "name": "alpha 1,4-galactosyltransferase (P1PK blood group)",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/a4galt"
      },
      {
        "slug": "alg1",
        "symbol": "ALG1",
        "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg1"
      },
      {
        "slug": "alg11",
        "symbol": "ALG11",
        "name": "ALG11 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg11"
      },
      {
        "slug": "alg12",
        "symbol": "ALG12",
        "name": "ALG12 alpha-1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg12"
      },
      {
        "slug": "alg13",
        "symbol": "ALG13",
        "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg13"
      },
      {
        "slug": "alg14",
        "symbol": "ALG14",
        "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg14"
      },
      {
        "slug": "alg2",
        "symbol": "ALG2",
        "name": "ALG2 alpha-1,3/1,6-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg2"
      },
      {
        "slug": "alg3",
        "symbol": "ALG3",
        "name": "ALG3 alpha-1,3- mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg3"
      },
      {
        "slug": "alg6",
        "symbol": "ALG6",
        "name": "ALG6 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg6"
      },
      {
        "slug": "alg8",
        "symbol": "ALG8",
        "name": "ALG8 alpha-1,3-glucosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg8"
      },
      {
        "slug": "alg9",
        "symbol": "ALG9",
        "name": "ALG9 alpha-1,2-mannosyltransferase",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/alg9"
      },
      {
        "slug": "atp6ap1",
        "symbol": "ATP6AP1",
        "name": "ATPase H+ transporting accessory protein 1",
        "shared": 1,
        "url": "https://dantelabs.com/ko/genes/atp6ap1"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}