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AI-Edigene® IDH2 p.R140Q Reference Standard Plus

CBP10513

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索取COA
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Introduction 
Format Genomic DNA
Description IDH2 R140Q lies within the substrate binding region of the Idh2 protein (UniProt.org). R140Q confers a gain of function to Idh2, enabling conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate), results in increased 2HG levels in patient samples, and is transforming in cell culture (PMID: 20171147, PMID: 23558173).
   
Technical Data 
DNA Change c.419G>A
AA Change p.R140Q
Mutation type Substitution - Missense
Zygosity Homozygous
Allelic Frequency 100%
Transcript NM_002168.4
Cosmic ID COSM41590
Chr position(GRCh37) chr15:90631934
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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