BRCA2 p.R2973C Reference Standard

CBP10374

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產(chǎn)品描述

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Introduction
Format	Genomic DNA
Description	BRCA2 R2973C lies within the DNA-binding domain of the Brca2 protein (PMID: 12228710). R2973C mediates homology-directed DNA repair at a level comparable to wild-type Brca2 in cultured cells (PMID: 23108138) and therefore, is predicted to have no effect on Brca2 protein function.

Technical Data
DNA Change	c.8917C>T
AA Change	p.R2973C
Mutation type	Missense_Mutation
Zygosity	Heterozygous
Allelic Frequency	100%
Transcript	ENST00000380152
Cosmic ID	COSM2071543
Chr position(GRCh37)	chr13:32953616
Buffer	Tris-EDTA

Product Information
Intended Use	Research Use Only
Unit Size	1ug
Concentration	Download for COA
Purofication	Download for COA
DNA electrophoresis	Download for COA
Sanger sequencing
Storage	2-8°C
Expiry	36 months from the date of manufacture

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