基因檢測標準品 > Mutation > CBP10514AI-Edigene® IDH2 p.R172K Reference Standard P
名稱
AI-Edigene® IDH2 p.R172K Reference Standard P
型號
CBP10514
報價
特點
AI-Edigene® IDH2 p.R172K Reference Standard Plus
詳細內容
CBP10514
Format
Genomic DNA
Description
IDH2 R172K lies within the active site of the Idh2 protein (PMID: 19228619). R172K confers a gain of function to Idh2, as indicated by the increased conversion of alpha-ketoglutarate to the onco-metabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 20171147, PMID: 21326614).
Technical Data
DNA Change
c.515G>A
AA Change
p.R172K
Mutation type
Substitution - Missense
Zygosity
Homozygous
Allelic Frequency
100%
Transcript
NM_002168.4
Cosmic ID
COSM33733
Chr position(GRCh37)
chr15:90631838
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
4°C
Expiry
36 months from the date of manufacture
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