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Gene : CHRNB1 Homo sapiens

Name  ? cholinergic receptor nicotinic beta 1 subunit Cytological Location  17p13.1
Brief Description  cholinergic receptor nicotinic beta 1 subunit
Description  The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
  • synonyms:
  • HGNC:1961,
  • ACHRB,
  • CMS2A,
  • cholinergic receptor, nicotinic beta 1,
  • CMS1D,
  • NM_000747,
  • uc002ghb.4,
  • CHRNB,
  • acetylcholine receptor, nicotinic, beta 1 (muscle),
  • cholinergic receptor, nicotinic, beta 1 (muscle),
  • cholinergic receptor, nicotinic, beta polypeptide 1 (muscle),
  • CHRNB,
  • CHRNB1,
  • OTTHUMG00000108139,
  • CMS2C,
  • SCCMS,
  • X14830
  • identifiers:
  • 1140,
  • ENSG00000170175,
  • CHRNB1

Genome feature

Region: gene ? Length: 12650  
Location: 17:7445061-7457710 Cyto location: 17p13.1


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Proteins

Gene --> Proteins.

SNPs

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Disease

2 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

3753 SN Ps

4 Cross References

18 Data Sets

25 Homologues

0 Located Features

97 Rna Seq Results