PrimePCR™ Probe Assay: EML1, 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:   qHsaCEP0025248
Assay Design:   Exonic
Chromosome Location:   14:100317190-100317284question
Amplicon Length:   65
Splice Variants Targeted:   ENST00000554479 ENST00000555145 ENST00000327921 ENST00000556199 ENST00000556835 ENST00000262233 ENST00000334192 ENST00000556714 ENST00000553720 ENST00000556947 ENST00000542138

Gene Information

Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness retinitis pigmentosa and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A USH1B USH1C USH1D USH1E and USH1F) type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   EML1
Gene Name:   echinoderm microtubule associated protein like 1
Aliases:   ELP79, EMAP, EMAPL, FLJ45033, HuEMAP
RefSeq:   NC_000014.8 NT_026437.12
Ensembl:   ENSG00000066629
Entrez:   2009
Chromosome Mapping:   14q32

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 0.999100
y-intercept 35.050000
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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