APC p.G1416fs Reference Standard

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RQP10443
GeneAPC
DescriptionAPC, 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 Changec.4248delC
AA Changep.G1416fs
Mutation typeFrame_Shift_Del
ZygosityHomozygous
Allelic Frequency100.00%
TranscriptENST00000457016.1
Cosmic IDCOSM18584
Chr position(GRCh37)chr5:112175539
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencingCBP10443.jpg
Storage4℃
Expiry36 months from the date of manufacture