Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, ATXN1 Gene

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Trinucleotide Repeats, CAG, ATXN1 Gene

Definition : Molecular assay reagents intended to identify CAG repeats in the ataxin 1 (ATXN1) gene, located at chromosome 6p23. A variation from the expected number of normal CAG trinucleotide repeat copies may produce altered DNA and improper gene functioning, resulting in full mutation. Normal alleles have from 6 to 44 CAG repeats which are interrupted with 1 to 3 CAG trinucleotide repeats. Alleles with more than 39 uninterrupted CAG trinucleotide repeats have been associated with spinocerebellar ataxia type 1 (SCA1).

Entry Terms : "Spinocerebellar Ataxia Type 1 (SCA1) Gene Mutation Reagents" , "Ataxia Gene Mutation Reagents" , "ATXN1 Gene Mutation Detection Reagents, CAG Trinucleotide Repeats"

UMDC code : 25023

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