BRCA2 p.K1691Nfs*15 Reference Standard

CBP10547

询价

索取COA

产品描述

产品数据库

Introduction
Format	Genomic DNA
Description	BRCA2, breast cancer type 2 susceptibility protein, is a tumor suppressor involved in the homologous recombination pathway for double-strand DNA repair, thereby playing a role in genome stability (PMID: 27530658). BRCA2 germline mutations increase the risk of developing ovarian and/or breast cancer (PMID: 23364291) and somatic mutations are highest in colon, NSCLC, and ovarian cancers (PMID: 27283171).

Technical Data
DNA Change	c.5073delA
AA Change	p.K1691Nfs*15
Mutation type	Missense_Mutation
Zygosity	Heterozygous
Allelic Frequency	50.00%
Transcript	NM_000059.4
Cosmic ID	COSM6048456
Chr position(GRCh37)	chr13:32913559
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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