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U2AF1 p.Q157P Reference Standard

CBP10222

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Introduction 
Format Genomic DNA
Description U2AF1 Q157P is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type 2 Zinc finger region of the U2af1 protein (UniProt.org). Q157P confers a gain of function to the U2af1 protein as indicated by increased exon skipping and aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
   
Technical Data 
DNA Change c.470A>C
AA Change p.Q157P
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 33.33%
Transcript ENST00000291552
Cosmic ID COSM211534
Chr position(GRCh37) chr21:44514777
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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