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基因检测标准品 > Mutation > CBP10464PTEN p.R130Afs*51 Reference Standard 标准品

PTEN p.R130Afs*51 Reference Standard 标准品
名称 PTEN p.R130Afs*51 Reference Standard 标准品
型号 CBP10464
报价
特点 PTEN p.R130Afs*51 Reference Standard
  • 详细内容
 CBP10464
GenePTEN
DescriptionPTEN, 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 Changec.386_387insCGCC
AA Changep.R130Afs*51
Mutation typeFrame_Shift_Ins
ZygosityHomozygous
Allelic Frequency100.00%
TranscriptENST00000371953.3
Cosmic IDN/A
Chr position(GRCh37)chr10:89692902_89692903
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

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Storage4℃
Expiry36 months from the date of manufacture

 

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