PrimePCR™ ddPCR™ Copy Number Assay: SHANK2, Human

PrimePCR

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   HEX; 67nt amplicon; exonic; HEX version of SHANK2 (dHsaCP2500304)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506482
Chromosome Location:   hg1911:70858227-70858349question
Amplicon Length:   67
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density (PSD). Shank proteins contain multiple domains for protein-protein interaction including ankyrin repeats an SH3 domain a PSD-95/Dlg/ZO-1 domain a sterile alpha motif domain and a proline-rich region. This particular family member contains a PDZ domain a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the PSDs of adult and developing brain. Two alternative splice variants encoding distinct isoforms are reported. Additional splice variants exist but their full-length nature has not been determined. [provided by RefSeq Jul 2008]

Gene Symbol:   SHANK2
Gene Name:   SH3 and multiple ankyrin repeat domains 2
Aliases:   AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
RefSeq:   NC_000011.9 NT_167190.1
Ensembl:   ENSG00000162105
Entrez:   22941
UniGene:   Hs.268726
Chromosome Mapping:   11q13.2

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX200
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis a single sample, using the EIF2C1 and RPP30 reference assays. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to AGO1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download