BRCA1 p.K654fs*47 Reference Standard
CBP10362
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| Introduction | |
| Format | Genomic DNA |
| Description | BRCA1 K654fs results in a change in the amino acid sequence of the Brca1 protein beginning at aa 654 of 1863, likely resulting in premature truncation of the functional protein (UniProt.org). K654fs has not been characterized, however, C-terminal deletion mutants downstream of K654 are inactivating (PMID: 16618730), thus K654fs is predicted to lead to a loss of Brca1 protein function. |
| Technical Data | |
| DNA Change | c.1961delA |
| AA Change | p.K654fs*47 |
| Mutation type | Deletion - Frameshift |
| Zygosity | Heterozygous |
| Allelic Frequency | N/A |
| Transcript | ENST00000357654 |
| Cosmic ID | COSM219054 |
| Chr position(GRCh37) | chr17:41245587chr17:41245594 |
| 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 |
