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BRCA2 p.Q1782fs Reference Standard

CBP10460

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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

 

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