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PTEN p.R173H Reference Standard

CBP10702

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Introduction 
Format Genomic DNA
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.518G>A
AA Change p.R173H
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 50%
Transcript ENST00000371953.8
Cosmic ID COSM5039
Chr position(GRCh38) chr10-87952143-G-A (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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