EZH2 p.Y646S Reference Standard
CBP10277
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| Introduction | |
| Format | Genomic DNA |
| Description | EZH2 Y646S (corresponds to Y641S in the canonical isoform) lies within a SET domain of the Ezh2 protein (UniProt.org). Y646S confers a gain of function to the Ezh2 protein, as demonstrated by altered substrate specificity, increased catalytic efficiency for H3K27 trimethylation (PMID: 21190999), and is transforming in cell culture (PMID: 25493630). |
| Technical Data | |
| DNA Change | c.1937A>C |
| AA Change | p.Y646S |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 33.33% |
| Transcript | ENST00000320356 |
| Cosmic ID | COSM37029 |
| Chr position(GRCh37) | chr7:148508727 |
| 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 |
