Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CNGB3

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CNGB3

Definition : Molecular assay reagents intended to identify mutations in the cyclic nucleotide gated channel beta 3 (CNGB3) gene, located at chromosome 8q21-q22, which encodes for a protein that produces a beta subunit essential to the generation of light-evoked electrical potential response in red-, green-, and blue-sensitive cones. Mutations at this locus have been identified in patients with achromatopsia 3 (Pingelapese achromatopsia), which is distinct from total color blindness due to consistent concurrent myopia.

Entry Terms : "CNGB3 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CNGB3"

UMDC code : 24352

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