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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

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