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 copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.
Info: FAM; 58nt amplicon; crosses exon-intron junction; FAM version of CHRNA7 (dHsaCP2506372)
The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains a variable cytoplasmic loop a fourth conserved transmembrane domain and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by and highly sensitive to alpha-bungarotoxin. Once this receptor binds acetylcholine it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq Feb 2012]
Products used to generate validation data:
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.
ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).