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: HEX; Same primer pair and probe as used in qPCR assay qHsaCEP0054834; exonic
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect and also tetralogy of Fallot which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5 a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq Oct 2009]