BRCA2 p.C1200fs*1 Reference Standard
CBP10386
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| Introduction | |
| Format | Genomic DNA |
| Description | BRCA2 C1200fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1200 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). C1200fs has not been characterized, however, due to the effects of other truncations downstream of C1200 (PMID: 12619154, PMID: 15695382), C1200fs is predicted to lead to a loss of Brca2 protein function. |
| Technical Data | |
| DNA Change | c.3598_3599delTG |
| AA Change | p.C1200fs*1 |
| Mutation type | Frame_Shift_Del |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000380152.3 |
| Cosmic ID | COSM18623 |
| Chr position(GRCh37) | chr13:32912091 |
| 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 |
