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: HEX; 70nt amplicon; exonic; HEX version of PICALM (dHsaCP2500444)
This gene encodes a clathrin assembly protein which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq May 2011]
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).