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基因检测标准品 > Mutation > CBP10120PTEN p.R130* Reference Standard 标准品

PTEN p.R130* Reference Standard 标准品
名称 PTEN p.R130* Reference Standard 标准品
型号 CBP10120
报价
特点 PTEN p.R130* Reference Standard
  • 详细内容

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 CBP10120
FormatGenomic DNA
DescriptionPTEN R130* results in a premature truncation of the Pten protein at amino acid 130 of 403 within the phosphatase tensin-type domain (UniProt.org). R130* confers a loss of function to the Pten protein as demonstrated by decreased p53 signaling and increased DNA damage in xenografts (PMID: 24721394) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
  
Technical Data 
DNA Change:c.388C>T
AA Changep.R130*
Mutation typeSubstitution - Nonsense
ZygosityHomozygous
Allelic Frequency100%
TranscriptENST00000371953
Cosmic IDCOSM5152
Chr position(GRCh37)chr10:89692904
Buffer:Tris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10120.png

Storage4℃
Expiry36 months from the date of manufacture

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