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Gene : CHRNE Homo sapiens

Name  ? cholinergic receptor nicotinic epsilon subunit Cytological Location  17p13.2
Brief Description  cholinergic receptor nicotinic epsilon subunit
Description  Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
  • synonyms:
  • CMS4A,
  • ACHRE,
  • uc002fzk.2,
  • NM_000080,
  • CMS4B,
  • acetylcholine receptor, nicotinic, epsilon (muscle),
  • CMS1E,
  • CHRNE,
  • CMS1D,
  • OTTHUMG00000090778,
  • ACHRE,
  • cholinergic receptor, nicotinic, epsilon,
  • CMS4C,
  • HGNC:1966,
  • SCCMS,
  • cholinergic receptor, nicotinic, epsilon (muscle),
  • FCCMS,
  • CMS2A,
  • X66403,
  • cholinergic receptor, nicotinic epsilon
  • identifiers:
  • 1145,
  • ENSG00000108556,
  • CHRNE

Genome feature

Region: gene ? Length: 7249  
Location: 17:4897771-4905019 reverse strand Cyto location: 17p13.2


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Proteins

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SNPs

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Disease

3 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

3740 SNPs

5 Cross References

17 Data Sets

24 Homologues

0 Located Features

97 Rna Seq Results