AI-Edigene? IDH2 p.R140Q Reference Standard Plus
CBP10513
詢(xún) 價(jià)
索取COA
產(chǎn)品描述
產(chǎn)品數據庫
| 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 |
