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Gene : CNGB3 Homo sapiens

Name  ? cyclic nucleotide gated channel subunit beta 3 Cytological Location  8q21.3
Brief Description  cyclic nucleotide gated channel subunit beta 3
Description  This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
  • synonyms:
  • ACHM1,
  • OTTHUMG00000163738,
  • achromatopsia (rod monochromacy) 3,
  • ACHM3,
  • AF228520,
  • NM_019098,
  • achromatopsia (rod monochromacy) 1,
  • RMCH,
  • CNGB3,
  • ACHM1,
  • cyclic nucleotide gated channel beta 3,
  • HGNC:2153,
  • uc003ydx.3
  • identifiers:
  • 54714,
  • ENSG00000170289,
  • CNGB3

Genome feature

Region: gene ? Length: 170068  
Location: 8:86573608-86743675 reverse strand Cyto location: 8q21.3


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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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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

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

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Other

0 Pathways

407 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results