PrimePCR™ Probe Assay: DHCR7, Human

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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:    $190.00
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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0054202
Assay Design:   exonic
Chromosome Location:   11:71155992-71159337question
Amplicon Length:   110
Splice Variants Targeted:   ENST00000407721 ENST00000355527 ENST00000524694 ENST00000527316 ENST00000526780 ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452

Gene Information

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by mental retardation facial dysmorphism syndactyly of second and third toes and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq Aug 2009]

Gene Symbol:   DHCR7
Gene Name:   7-dehydrocholesterol reductase
Aliases:   SLOS
RefSeq:   NC_000011.9 NT_167190.1 NG_012655.1
Ensembl:   ENSG00000172893
Entrez:   1717
UniGene:   Hs.503134
Chromosome Mapping:   11q13.4

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 0.998200
y-intercept 36.040000
Efficiency 99

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.

Number Description Download
6262 PrimePCR Assays: Meeting the MIQE Guidelines by Full Wet-Lab Validation, Rev B Click to download
6263 PrimePCR Pathway Analysis: Pathway Curation and Real-Time PCR Panel Design Strategy, Rev B Click to download
6290 PrimePCR Assays and Panels Brochure, Rev D Click to download
LIT10026370 Instruction Manual, PrimePCR Assays, Panels, and Controls, Rev E Click to download
10039761 PrimePCR™ Assays Quick Guide, Ver B Click to download
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