PrimePCR™ ddPCR™ Copy Number Assay: ACTA2, 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 ACTA2 (dHsaCP1000421)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506955
Chromosome Location:   hg1910:90697890-90698012question
Amplicon Length:   67
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

The protein encoded by this gene belongs to the actin family of proteins which are highly conserved proteins that play a role in cell motility structure and integrity. Alpha beta and gamma actin isoforms have been identified with alpha actins being a major constituent of the contractile apparatus while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Defects in this gene cause aortic aneurysm familial thoracic type 6. Multiple alternatively spliced variants encoding the same protein have been identified. [provided by RefSeq Nov 2008]

Gene Symbol:   ACTA2
Gene Name:   actin, alpha 2, smooth muscle, aorta
Aliases:   AAT6, ACTSA
RefSeq:   NC_000010.10 NG_011541.1 NT_030059.13
Ensembl:   ENSG00000107796
Entrez:   59
UniGene:   Hs.500483
Chromosome Mapping:   10q23.3

  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 TERT and EIF2C1 reference assays respectively. Technical replicates are shown.

Copy Number Text

Copy Number
Copy number analysis of two samples, using the TERT and EIF2C1 reference assays respectively. Technical replicates are shown.

Copy Number Text

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

ddPCR Amplitude Scatter Plot Text

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

ddPCR Amplitude Scatter Plot Text

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