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AI-Edigene® IDH1 p.R132H Reference Standard Plus

CBP10516

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Introduction 
Format Genomic DNA
Description IDH1 R132H lies within the active site of the Idh1 protein (PMID: 19228619). R132H results in decreased conversion of isocitrate to alpha-ketoglutarate by Idh1, but also confers a gain of function to Idh1, as indicated by increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture and in vitro assays, and is associated with increased 2HG levels in patient samples (PMID: 19935646, PMID: 23731180).
   
Technical Data 
DNA Change c.395G>A
AA Change p.R132H
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript NM_005896.4
Cosmic ID COSM28746
Chr position(GRCh37) chr2:209113112
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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