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PTEN p.T321fs Reference Standard

CBP10448

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Introduction 
Gene PTEN
Description PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however other C-terminal deletion mutants downstream of T321 are inactivating (PMID: 10468583), thus T321fs is predicted to lead to a loss of Pten protein function.
   
Technical Data 
DNA Change c.968delA
AA Change p.R234fs
Mutation type Frame_Shift_Ins
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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