IDH1 p.R132S Reference Standard
CBP10587
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| Introduction | |
| Format | Genomic DNA |
| Description | IDH1 R132S lies within the active site of the Idh1 protein. R132S 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. |
| Technical Data | |
| DNA Change | c.394C>A |
| AA Change | p.R132S |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 33.33% |
| Transcript | NM_005896.4 |
| Cosmic ID | COSM28748 |
| Chr position(GRCh37) | chr2-209113113-G-T |
| 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 |
