AI-Edigene? IDH1 p.R132H Reference Standard Plus
CBP10516
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產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫
| Introduction | |
| 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 | 2-8°C |
| Expiry | 36 months from the date of manufacture |
