PrimePCR™ Probe Assay: MLPH, 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: MLPH, 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: MLPH, 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:   qHsaCEP0024867
Assay Design:   Exonic
Chromosome Location:   2:238462375-238462465question
Amplicon Length:   61
Splice Variants Targeted:   ENST00000434770 ENST00000338530 ENST00000409373 ENST00000437893 ENST00000264605 ENST00000410032

Gene Information

This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3 which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants of this gene have been described but the full-length nature of some of these variants has not been determined. [provided by RefSeq Jul 2008]

Gene Symbol:   MLPH
Gene Name:   melanophilin
Aliases:   MGC2771, MGC59733, SLAC2-A
RefSeq:   NC_000002.11 NT_005120.16 NG_007286.1
Ensembl:   ENSG00000115648
Entrez:   79083
Chromosome Mapping:   2q37.3

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™ SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.995700
y-intercept 36.710000
Efficiency 93

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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