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基因检测标准品 > Mutation > CBP10513AI-Edigene® IDH2 p.R140Q Reference Standard P

AI-Edigene® IDH2 p.R140Q Reference Standard P
名称 AI-Edigene® IDH2 p.R140Q Reference Standard P
型号 CBP10513
报价
特点 AI-Edigene® IDH2 p.R140Q Reference Standard Plus
  • 详细内容
 CBP10513
FormatGenomic DNA
DescriptionIDH2 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 Changec.419G>A
AA Changep.R140Q
Mutation typeSubstitution - Missense
ZygosityHomozygous
Allelic Frequency100%
TranscriptNM_002168.4
Cosmic IDCOSM41590
Chr position(GRCh37)chr15:90631934
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10513.png

Storage4°C
Expiry36 months from the date of manufacture

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