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PTEN p.K128_R130del Reference Standard

CBP10717

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Introduction 
Gene PTEN
Description PTEN K128_R130del results in the deletion of 3 amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 128 to 130 (UniProt.org). K128_R130del confers a loss of function on the Pten protein as indicated by failure to regulate glucose uptake and to dephosphorylate AKT in cell culture.
   
Technical Data 
DNA Change c.383_391del
AA Change p.K128_R130delAAGGGACGA
Mutation type Deletion - In frame
Zygosity Homozygous
Allelic Frequency 100%
Transcript ENST00000371953.3
Cosmic ID COSM4967
Chr position chr10-87933141-AAGGGACGA(9bp)_hg38
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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