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Gene : CNGB1 Homo sapiens

Name  ? cyclic nucleotide gated channel subunit beta 1 Cytological Location  16q21
Brief Description  cyclic nucleotide gated channel subunit beta 1
Description  In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
  • synonyms:
  • RCNC2,
  • GAR1,
  • CNG4,
  • RP45,
  • HGNC:2151,
  • glutamic acid-rich protein,
  • CNCG3L,
  • CNCG3L,
  • RCNCb,
  • GARP,
  • CNCG2,
  • CNGB1B,
  • AF042498,
  • RP45,
  • RCNCbeta,
  • RCNCb,
  • GARP,
  • CNCG2,
  • uc002emt.3,
  • RCNC2,
  • CNGB1,
  • GARP2,
  • cyclic nucleotide gated channel beta 1,
  • cyclic nucleotide-gated cation channel beta-1,
  • CNGB1B,
  • CNCG4,
  • OTTHUMG00000154810,
  • NM_001297,
  • GAR1
  • identifiers:
  • 1258,
  • ENSG00000070729,
  • CNGB1

Genome feature

Region: gene ? Length: 88789  
Location: 16:57882340-57971128 reverse strand Cyto location: 16q21

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


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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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



17 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results