PrimePCR™ Probe Assay: OFD1, 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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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0049361
Assay Design:   exonic
Chromosome Location:   X:13786899-13787277question
Amplicon Length:   69
Splice Variants Targeted:   ENST00000340096 ENST00000380567 ENST00000380550

Gene Information

This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome however unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq Jul 2008]

Gene Symbol:   OFD1
Gene Name:   oral-facial-digital syndrome 1
Aliases:   71-7A, CXorf5, JBTS10, MGC117039, MGC117040, SGBS2
RefSeq:   NC_000023.10 NG_008872.1 NG_011555.1 NG_011988.1 NT_167197.1
Ensembl:   ENSG00000046651
Entrez:   8481
Chromosome Mapping:   Xp22

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 0.999800
y-intercept 35.620000
Efficiency 98

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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