BRCA2 p.Q1782fs Reference Standard

CBP10460

询价

索取COA

产品描述

产品数据库

Introduction
Gene	BRCA2
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.5351delA
AA Change	p.Q1782fs
Mutation type	Frame_Shift_Del
Zygosity	Heterozygous
Allelic Frequency	50.00%
Transcript	ENST00000380152.3
Cosmic ID	COSM18607
Chr position(GRCh37)	chr13:32913837
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℃
Expiry	36 months from the date of manufacture

相关产品推荐

• BRCA2 Deletion (1419bp del) • BRCA2 Deletion (2135bp del) • BRCA2 Insertion (216bp) • BRCA2 p.A3029T Reference Standard • BRCA2 p.A487V Reference Standard • BRCA2 p.C1200fs*1 Reference Standard • BRCA2 p.D1476G Reference Standard • BRCA2 p.E1518Q Reference Standard • BRCA2 p.E1593* Reference Standard • BRCA2 p.E2292A Reference Standard

返回列表