PrimePCR™ ddPCR™ Mutation Assay: AKT1 WT for p.E17K, Human

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

ddPCR probe assay designed for mutation detection. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   64nt amplicon; crosses exon-intron junction

 
Fluorophore:   HEX
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Assay Information

Technology:   ddPCR
Assay Type   Probe
Application:   Mutation Detection
Unique Assay ID:   dHsaCP2000032
Chromosome Location:   14: 105246528-105246650question
Amplicon Length:   64
Cosmic ID   COSM33765
Nucleotide Mutation Detection   WT for c.49G>A
Amino Acid Change   WT for p.E17K
Restriction Enzymes   MseI

Gene Information

The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq Jul 2011]

Gene Symbol:   AKT1
Gene Name:   v-akt murine thymoma viral oncogene homolog 1
Aliases:   AKT, MGC99656, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA
RefSeq:   NC_000014.8 NT_026437.12 NG_012188.1
Ensembl:   ENSG00000142208
Entrez:   207
UniGene:   Hs.525622
Chromosome Mapping   14q32.32,14q32.32

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX100
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample Horizon MCF10a (mut), Promega female human genomic DNA (WT)

%Fractional Abundance
Dilution series of mutant DNA in ~40,000 copies of wild type DNA background.

ddPCR Amplitude Scatter Plot (wild type + mutant)
Single-well data for mutant DNA spiked into wild-type DNA (~0.1%). Mutation assay (FAM, Channel 1) was duplexed with the corresponding wild-type reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot (wild type + mutant)

ddPCR Amplitude Scatter Plot (wild type)
Single-well data for wild-type DNA (no mutant). Mutation assay (FAM, Channel 1) was duplexed with the corresponding wild-type reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot (wild type)

Number Description Download
10033487 PrimePCR ddPCR Mutation Detection Assays Product Insert, Rev B Click to download
10033173 PrimePCR ddPCR Copy Number Variation (CNV) Assays Product Insert, Rev B Click to download
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