PrimePCR™ Probe Assay: AIPL1, 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: AIPL1, 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: AIPL1, 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:   qHsaCEP0040571
Assay Design:   exonic
Chromosome Location:   17:6330201-6330322question
Amplicon Length:   92
Splice Variants Targeted:   ENST00000381129 ENST00000250087 ENST00000574506 ENST00000575265 ENST00000570466 ENST00000576776 ENST00000576307 ENST00000571740 ENST00000574913

Gene Information

Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited retinal disease and is the most severe inherited retinopathy with the earliest age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness nystagmus and an abnormal or flat electroretinogram. The photoreceptor/pineal -expressed gene AIPL1 encoding aryl-hydrocarbon interacting protein-like 1 was mapped within the LCA4 candidate region. The protein contains three tetratricopeptide motifs consistent with nuclear transport or chaperone activity. AIPL1 mutations may cause approximately 20% of recessive LCA. [provided by RefSeq Jul 2008]

Gene Symbol:   AIPL1
Gene Name:   aryl hydrocarbon receptor interacting protein-like 1
Aliases:   AIPL2, LCA4
RefSeq:   NC_000017.10 NT_010718.16 NG_008474.1
Ensembl:   ENSG00000129221
Entrez:   23746
Chromosome Mapping:   17p13.1

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

Summary Data:

R2 0.999800
y-intercept 35.340000
Efficiency 97

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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