IDH2 p.R172S Reference Standard
CBP10291
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| Introduction | |
| Format | Genomic DNA |
| Description | IDH2 R172S lies within the active site of the Idh2 protein (PMID: 19228619). R172S confers a gain of function to the Idh2 protein as demonstrated by accumulation 2HG (R(-)-2-hydroxyglutarate), and leads to increased migration in cultured cells (PMID: 23264629, PMID: 27913435). |
| Technical Data | |
| DNA Change | c.516G>T |
| AA Change | p.R172S |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 51.40% |
| Transcript | ENST00000330062 |
| Cosmic ID | COSM34090 |
| Chr position(GRCh37) | chr15:90631837 |
| 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 |
