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 qHsaCIP0033121; Intron-spanning
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene as well as in a neighboring gene that lies in a head-to-head configuration cause Ellis-van Creveld syndrome an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type also referred to as Curry-Hall syndrome a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq Oct 2009]