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 | 4℃ |
| Expiry | 36 months from the date of manufacture |
