EZH2 p.Y646N Reference Standard
CBP10275
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| Introduction | |
| Format | Genomic DNA |
| Description | EZH2 Y646N (also reported as Y641N) lies within a SET domain of the Ezh2 protein (UniProt.org). Y646N confers a gain of function to the Ezh2 protein, as demonstrated by increased trimethylation at H3K27 (PMID: 22194861) and promotion of tumor growth in cell line derived xenograft models (PMID: 25493630). |
| Technical Data | |
| DNA Change | c.1936T>A |
| AA Change | p.Y646N |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000320356 |
| Cosmic ID | COSM37031 |
| Chr position(GRCh37) | chr7:148508728 |
| 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℃ |
| Expiry | 36 months from the date of manufacture |
