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PTEN Splice Donor Site Mutation (c.165-2A>C) Reference Standard

CBP10718

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Introduction 
Gene PTEN
Description PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway. PTEN germline mutations are common in Cowden syndrome and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial , melanoma, and prostate.
   
Technical Data 
DNA Change c.165-2A>C
AA Change N/A
Mutation type Substitution - Missense
Zygosity Homozygous
Allelic Frequency 100%
Transcript ENST00000371953.3
Cosmic ID COSM5959
Chr position chr10-87925511-A-C_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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