This is the amplicon context sequence in accordance with the minimum information for the publication of real-time quantitative PCR experiements (MIQE) guidelines. For more details, please refer to the following publication, "Primer Sequence Disclosure: A Clarification of the MIQE Guidelines."
ddPCR™ probe assay designed for mutation detection. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
Info: 80nt amplicon; crosses exon-intron junction; in silico
This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome autosomal dominant progressive external ophthalmoplegia-5 and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq Feb 2010]