| 名稱 | AI-Edigene® IDH1 p.R132H Reference Standard P |
| 型號 | CBP10516 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | AI-Edigene® IDH1 p.R132H Reference Standard Plus |
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Email： zhangxiangwen@cobioer.com
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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10516AI-Edigene® IDH1 p.R132H Reference Standard P
- 詳細(xì)內(nèi)容
CBP10516 | |
| Format | Genomic DNA |
| Description | IDH1 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 Change | c.395G>A |
| AA Change | p.R132H |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | NM_005896.4 |
| Cosmic ID | COSM28746 |
| Chr position(GRCh37) | chr2:209113112 |
| 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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