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CDKN2A p.ATAAA17fs Reference Standard

CBP10434

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Introduction 
Gene CDKN2A
Description CDKN2A, cyclin-dependent kinase inhibitor 2A, is a tumor suppressor (PMID: 30562755) that encodes p16 and p14ARF from alternate reading frames, which function to inhibit Cdk4 and Cdk6 and regulate Tp53 activity to promote cell-cycle arrest (PMID: 23875803, PMID: 17055429, PMID: 27428416). CDKN2A germline mutations are associated with familial atypical multiple mole melanoma and somatic mutations are highest in pancreatic, HNSCC, NSCLC, and melanoma (PMID: 27283171).
   
Technical Data 
DNA Change c.37_49del
AA Change p.ATAAA17f
Mutation type Frame_Shift_Del
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000304494.5
Cosmic ID N/A
Chr position(GRCh37) chr9:21974790_21974778
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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