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U2AF1 p.S34F Reference Standard

CBP10221

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Introduction 
Format Genomic DNA
Description U2AF1 S34F is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type 1 Zinc finger region of the U2af1 protein (UniProt.org). S34F confers a gain of function to the U2af1 protein as indicated by aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 28436936), ectopic expression, and promotion of cell proliferation in culture (PMID: 29991672).
   
Technical Data 
DNA Change c.101C>T
AA Change p.S34F
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 25%
Transcript ENST00000291552
Cosmic ID COSM166866
Chr position(GRCh37) chr21:44524456
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 Download for COA
Storage 2-8
Expiry 36 months from the date of manufacture

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