PrimePCR™ Probe Assay: COL6A3, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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PrimePCR™ PreAmp for Probe Assay: COL6A3, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: COL6A3, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0053332
Assay Design:   exonic
Chromosome Location:   2:238285762-238285906question
Amplicon Length:   115
Splice Variants Targeted:   ENST00000295550 ENST00000472056 ENST00000409809 ENST00000392004 ENST00000392003 ENST00000433762 ENST00000347401 ENST00000353578 ENST00000346358

Gene Information

This gene encodes the alpha-3 chain one of the three alpha chains of type VI collagen a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains similar to von Willebrand Factor type A domains that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy also referred to as Ullrich scleroatonic muscular dystrophy an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified but the full-length nature of only some of these variants has been described. [provided by RefSeq Jun 2009]

Gene Symbol:   COL6A3
Gene Name:   collagen, type VI, alpha 3
Aliases:   DKFZp686D23123, DKFZp686K04147, DKFZp686N0262, FLJ34702, FLJ98399
RefSeq:   NC_000002.11 NG_008676.1 NT_005120.16
Ensembl:   ENSG00000163359
Entrez:   1293
Chromosome Mapping:   2q37

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)

Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ Universal SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999700
y-intercept 36.790000
Efficiency 95

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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