IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, ATXN7 Gene
Definition : Molecular assay reagents intended to identify CAG repeats in the ataxin 7 (ATXN7) gene, located at chromosome 3p21.1-p12. Normal alleles have from 7 to 17 CAG trinucleotide repeats. A variation from the expected number of normal CAG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Alleles with from 38 to 100 CAG trinucleotide repeats have been associated with spinocerebellar type 7 (SCA7).
Entry Terms : "Autosomal Dominant Cerebellar Ataxia Type 2 Gene Mutation Reagents" , "Ataxia Gene Mutation Reagents" , "Spinocerebellar Ataxia Type 6 (SCA6) Gene Mutation Detection Reagents" , "ATXN7 Gene Mutation Detection Reagents, CAG Trinucleotide Repeats" , "Reagents, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, ATXN7 Gene"
UMDC code : 25026