JAK2 p.V617F Reference Standard
CBP10340
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| Introduction | |
| Format | Genomic DNA |
| Description | JAK2 V617F lies within the protein kinase 1 (JH2, pseudokinase) of the Jak2 protein (UniProt.org). V617F results in constitutive activation of Jak2 and downstream Stat5 and Erk, is transforming in cell culture, and leads to development of erythrocytosis in mouse models (PMID: 15858187, PMID: 15837627, PMID: 15793561, PMID: 28473624). |
| Technical Data | |
| DNA Change | c.1849G>T |
| AA Change | p.V617F |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000381652 |
| Cosmic ID | COSM12600 |
| Chr position(GRCh37) | chr9:5073770 |
| 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 |
