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 qHsaCEP0055555; exonic
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides nucleobases and their related analogs. Mutations in this gene have been associated with H syndrome which is characterized by cutaneous hyperpigmentation and hypertrichosis hepatosplenomegaly heart anomalies and hypogonadism. A related disorder PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq Mar 2010]