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Gene : CNGA1 Homo sapiens

Name  ? cyclic nucleotide gated channel subunit alpha 1 Cytological Location  4p12
Brief Description  cyclic nucleotide gated channel subunit alpha 1
description  The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
  • synonyms:
  • RCNCa,
  • CNCG,
  • RCNCa,
  • OTTHUMG00000160668,
  • CNCG1,
  • CNG1,
  • CNG-1,
  • CNGA1,
  • RCNC1,
  • RP49,
  • uc062wkc.1,
  • CNCG1,
  • RCNCalpha,
  • NM_000087,
  • cGMP-gated cation channel alpha-1,
  • CNCG,
  • M84741,
  • CNG1,
  • RP49,
  • RCNC1,
  • HGNC:2148,
  • cyclic nucleotide gated channel alpha 1
  • identifiers:
  • 1259,
  • ENSG00000198515,
  • CNGA1

Genome feature

Region: gene ? Length: 81704  
Location: 4:47935015-48016718 reverse strand Cyto location: 4p12


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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

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]

Homology

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Expression

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

Gene Ontology

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Other

3756 SN Ps

5 Cross References

18 Data Sets

16 Homologues

0 Located Features

97 Rna Seq Results