BRCA1 p.E23fs*17 Reference Standard
CBP10363
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| Introduction | |
| Format | Genomic DNA |
| Description | BRCA1 E23Vfs*17 (also referred to as BRCA1 185delAG) indicates a shift in the reading frame starting at amino acid 23 and terminating 17 residues downstream causing a premature truncation of the 1863 amino acid Brca1 protein (UniProt.org). E23Vfs*17 confers a loss of function to the Brca1 protein as indicated by embryonic lethality in homozygous transgenic mouse models and tumorigenesis in heterozygous transgenic mouse models (PMID: 27454287). |
| Technical Data | |
| DNA Change | c.66_67delAG |
| AA Change | p.E23fs*17 |
| Mutation type | Deletion - Frameshift |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000357654 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr17:41276045_41276046 |
| 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°C |
| Expiry | 36 months from the date of manufacture |
