PrimePCR™ ddPCR™ Mutation Assay:CREBBP p.R1446H, 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:   96nt amplicon; exonic; in silico

 
Fluorophore:   FAM
List Price:    $325.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2505632
Chromosome Location:   16:3788556-3788678question
Amplicon Length:   96
Reference Assays:   CREBBP(dHsaIS2505633)
Restriction Enzymes:   MseI

Gene Information

This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB) this gene is now known to play critical roles in embryonic development growth control and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain cysteine-histidine-rich regions and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq Feb 2009]

Gene Symbol:   CREBBP
Gene Name:   CREB binding protein
Aliases:   CBP, KAT3A, RSTS
RefSeq:   NC_000016.9 NT_010393.16 NG_009873.1
Ensembl:   ENSG00000005339
Entrez:   1387
UniGene:   Hs.459759
Chromosome Mapping:   16p13.3

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