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APC p.G1416fs Reference Standard

CBP10443

產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
Introduction 
Gene APC
Description APC, adenomatous polyposis coli, is a tumor suppressor (PMID: 30562755) and multi-domain protein regulating numerous cellular functions through interaction with beta-catenin and subsequent inhibition of Wnt signalling (PMID: 21502284). APC germline mutations are associated with familial adenomatous polyposis (PMID: 30562755) and somatic mutations with colon, endometrial, NSCLC, and breast cancers (PMID: 27283171).
   
Technical Data 
DNA Change c.4248delC
AA Change p.G1416fs
Mutation type Frame_Shift_Del
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript ENST00000457016.1
Cosmic ID COSM18584
Chr position(GRCh37) chr5:112175539
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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