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科研细胞
药靶细胞
标准品
NGS靶向捕获探针
AI-Edigene® IDH1 p.R132H Reference Standard Plus
CBP10516
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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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