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 gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
Info: FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0052412; exonic
The product encoded by this gene belongs to the actin family of proteins which are highly conserved proteins that play a role in cell motility structure and integrity. Alpha beta and gamma actin isoforms have been identified with alpha actins being a major constituent of the contractile apparatus while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause nemaline myopathy type 3 congenital myopathy with excess of thin myofilaments congenital myopathy with cores and congenital myopathy with fiber-type disproportion diseases that lead to muscle fiber defects. [provided by RefSeq Jul 2008]