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PTEN p.N323Mfs*21 Reference Standard

CBP10448

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Introduction 
Gene PTEN
Description
PTEN p.N323Mfs*21 is a frameshift mutation​ in the PTEN tumor suppressor gene. It produces a truncated, non-functional protein, leading to loss of PTEN activity. This dysfunction is a key driver in various cancers, such as endometrial and prostate cancers, and is associated with PTEN Hamartoma Tumor Syndrome.
   
Technical Data 
DNA Change c.968del(Deletion)
AA Change p.N323Mfs*21
Mutation type Deletion-Frameshift
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000371953.3
Cosmic ID COSM5801
Chr position(GRCh37) chr10:89720817
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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