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Gene : CNGA3 Homo sapiens

Name  ? cyclic nucleotide gated channel subunit alpha 3 Cytological Location  2q11.2
Brief Description  cyclic nucleotide gated channel subunit alpha 3
Description  This gene encodes a member of the cyclic nucleotide-gated cation channel protein family which is required for normal vision and olfactory signal transduction. Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness. Two alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
  • synonyms:
  • ACHM2,
  • CNG3,
  • uc002syt.4,
  • S76069,
  • CNG3,
  • CCNC1,
  • CNCG3,
  • NM_001298,
  • OTTHUMG00000130561,
  • CNGA3,
  • cyclic nucleotide gated channel alpha 3,
  • CNCG3,
  • ACHM2,
  • CCNCalpha,
  • CCNCa,
  • CCNCa,
  • CCNC1,
  • HGNC:2150
  • identifiers:
  • 1261,
  • ENSG00000144191,
  • CNGA3

Genome feature

Region: gene ? Length: 52974  
Location: 2:98346181-98399154 Cyto location: 2q11.2


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

3753 SN Ps

5 Cross References

19 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results