PrimePCR™ Probe Assay: MMACHC, 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.

List Price:    $214.00
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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0051729
Assay Design:   exonic
Chromosome Location:   1:45975864-45976011question
Amplicon Length:   118
Splice Variants Targeted:   ENST00000401061

Gene Information

The exact function of the protein encoded by this gene is not known however its C-terminal region shows similarity to TonB a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq Oct 2009]

Gene Symbol:   MMACHC
Gene Name:   methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Aliases:   DKFZp564I122, FLJ25671, RP11-291L19.3, cblC
RefSeq:   NC_000001.10 NG_013378.1 NT_032977.9
Ensembl:   ENSG00000132763
Entrez:   25974
Chromosome Mapping:   1p34.1

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 0.999400
y-intercept 35.440000
Efficiency 100

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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