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Gene : COG8 Homo sapiens

Name  ? component of oligomeric golgi complex 8 Cytological Location  16q22.1
Brief Description  component of oligomeric golgi complex 8
Description  This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
  • synonyms:
  • FLJ22315,
  • CDG2H,
  • DOR1,
  • COG8,
  • OTTHUMG00000154277,
  • AK025968,
  • uc002ewy.3,
  • HGNC:18623,
  • NM_032382,
  • DOR1
  • identifiers:
  • 84342,
  • ENSG00000213380,
  • COG8

Genome feature

Region: gene ? Length: 13137  
Location: 16:69326428-69339564 reverse strand Cyto location: 16q22.1


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Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

965 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results