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IDH2 p.R172S Reference Standard

CBP10291

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Introduction 
Format Genomic DNA
Description IDH2 R172S lies within the active site of the Idh2 protein (PMID: 19228619). R172S confers a gain of function to the Idh2 protein as demonstrated by accumulation 2HG (R(-)-2-hydroxyglutarate), and leads to increased migration in cultured cells (PMID: 23264629, PMID: 27913435).
   
Technical Data 
DNA Change c.516G>T
AA Change p.R172S
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 51.40%
Transcript ENST00000330062
Cosmic ID COSM34090
Chr position(GRCh37) chr15:90631837
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°C
Expiry 36 months from the date of manufacture

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