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PTEN p.R130* Reference Standard

CBP10120

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Introduction 
Format Genomic DNA
Description PTEN 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 Change p.R130*
Mutation type Substitution - Nonsense
Zygosity Homozygous
Allelic Frequency 100%
Transcript ENST00000371953
Cosmic ID COSM5152
Chr position(GRCh37) chr10:89692904
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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