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; 61nt amplicon; exonic; HEX version of SHANK3 (dHsaCP2500305)
This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors ion channels and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD) which is characterized by impairments in social interaction and communication and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15 and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq Mar 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 AGO1 reference assay (HEX, Channel 2).