PrimePCR™ Probe Assay: BRCA1, 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:   qHsaCEP0041326
Assay Design:   exonic
Chromosome Location:   17:41251816-41256152question
Amplicon Length:   65
Splice Variants Targeted:   ENST00000357654 ENST00000468300 ENST00000493795 ENST00000471181 ENST00000491747 ENST00000484087 ENST00000478531 ENST00000493919 ENST00000487825 ENST00000470026 ENST00000477152 ENST00000494123 ENST00000473961 ENST00000476777 ENST00000354071 ENST00000352993 ENST00000346315 ENST00000351666 ENST00000393691 ENST00000309486

Gene Information

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors DNA damage sensors and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II and through the C-terminal domain also interacts with histone deacetylase complexes. This protein thus plays a role in transcription DNA repair of double-stranded breaks and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants some of which are disease-associated mutations have been described for this gene but the full-length natures of only some of these variants has been described. A related pseudogene which is also located on chromosome 17 has been identified. [provided by RefSeq May 2009]

Gene Symbol:   BRCA1
Gene Name:   breast cancer 1, early onset
Aliases:   BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PSCP, RNF53
RefSeq:   NC_000017.10 NG_005905.2 NT_010783.15
Ensembl:   ENSG00000012048
Entrez:   672
Chromosome Mapping:   17q21

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