| 名稱 | AI-Edigene® IDH2 p.R140Q Reference Standard P |
| 型號(hào) | CBP10513 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | AI-Edigene® IDH2 p.R140Q Reference Standard Plus |
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10513AI-Edigene® IDH2 p.R140Q Reference Standard P
- 詳細(xì)內(nèi)容
CBP10513 | |
| 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 | 4°C |
| Expiry | 36 months from the date of manufacture |
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