PrimePCR™ ddPCR™ Copy Number Assay: CHRNA7, 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:   FAM; 58nt amplicon; crosses exon-intron junction; FAM version of CHRNA7 (dHsaCP2506372)

 
Fluorophore:   FAM
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP1000530
Chromosome Location:   15:32323147-32323269question
Amplicon Length:   58
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

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]

Gene Symbol:   CHRNA7
Gene Name:   cholinergic receptor, nicotinic, alpha 7
Aliases:   CHRNA7-2, NACHRA7
RefSeq:   NC_000015.9 NG_009216.1 NT_010194.17
Ensembl:   ENSG00000175344
Entrez:   1139
UniGene:   Hs.511772
Chromosome Mapping:   15q14

  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 EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download