PrimePCR™ ddPCR™ Copy Number Assay: SHANK3, 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; 61nt amplicon; exonic; HEX version of SHANK3 (dHsaCP2500305)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506483
Chromosome Location:   hg1922:51160687-51160809question
Amplicon Length:   61
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

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]

Gene Symbol:   SHANK3
Gene Name:   SH3 and multiple ankyrin repeat domains 3
Aliases:   DEL22q13.3, KIAA1650, PROSAP2, PSAP2, SPANK-2
RefSeq:   NC_000022.10 NG_008607.1 NT_011526.7
Ensembl:   ENSG00000251322
Entrez:   85358
UniGene:   Hs.149035
Chromosome Mapping:   22q13.3

  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 of two samples, using the EIF2C1 reference assay. 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