BRCA1 p.Q1756fs Reference Standard
CBP10360
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| Introduction | |
| Format | Genomic DNA |
| Description | BRCA1 Q1756* results in a premature truncation of the Brca1 protein at amino acid 1756 of 1863 (UniProt.org). Q1756* has not been characterized, however, other BRCT domain deletion mutants downstream of Q1756 are destablizing (PMID: 14534301), thus Q1756* is predicted to lead to a loss of Brca1 protein function. |
| Technical Data | |
| DNA Change | c.5266dup C |
| AA Change | p.Q1756fs |
| Mutation type | Frame_Shift_Ins |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000357654 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr17:41209080 |
| 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°C |
| Expiry | 36 months from the date of manufacture |
