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基因检测标准品 > Mutation > CBP10516AI-Edigene® IDH1 p.R132H Reference Standard P

AI-Edigene® IDH1 p.R132H Reference Standard P
名称 AI-Edigene® IDH1 p.R132H Reference Standard P
型号 CBP10516
报价
特点 AI-Edigene® IDH1 p.R132H Reference Standard Plus
  • 详细内容
 CBP10516
FormatGenomic DNA
DescriptionIDH1 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 Changec.395G>A
AA Changep.R132H
Mutation typeSubstitution - Missense
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptNM_005896.4
Cosmic IDCOSM28746
Chr position(GRCh37)chr2:209113112
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10516.png

Storage4°C
Expiry36 months from the date of manufacture

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