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PTEN p.R130Afs*51 Reference Standard

CBP10464

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Introduction 
Gene PTEN
Description PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor (PMID: 30562755) with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway (PMID: 24656806, PMID: 30145641). PTEN germline mutations are common in Cowden syndrome (PMID: 30562755) and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial (PMID: 30142194), melanoma (PMID: 30148988), and prostate (PMID: 18767981, PMID: 30153654).
   
Technical Data 
DNA Change c.386_387insCGCC
AA Change p.R130Afs*51
Mutation type Frame_Shift_Ins
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript ENST00000371953.3
Cosmic ID N/A
Chr position(GRCh37) chr10:89692902_89692903
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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