ATM p.R337C Reference Standard
CBP10102
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| Introduction | |
| Format | Genomic DNA |
| Description | ATM R337C does not lie within any known functional domains of the Atm protein (UniProt.org). R337C has been identified in sequencing studies (PMID: 27334835, PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jul 2018). |
| Technical Data | |
| DNA Change: | c.1009C>T |
| AA Change | p.R337C |
| Mutation type | Missense_Mutation |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000452508.2 |
| Cosmic ID | COSM21323 |
| Chr position(GRCh37) | chr11:108117798 |
| Buffer: | Tris-EDTA |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purity | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
