SMAD4 p.R361H Reference Standard
CBP10134
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| Introduction | |
| Format | Genomic DNA |
| Description | SMAD4 R361H lies at a hotspot residue within the MH2 domain of the Smad4 protein (UniProt.org). R361H is predicted to result in a loss of heterocomplex Formation (PMID: 21763698), but has not been biochemically characterized and therefore, its effect on Smad4 protein function is unknown (PubMed, Aug 2018). |
| Technical Data | |
| DNA Change: | c.1082G>A |
| AA Change | p.R361H |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000342988 |
| Cosmic ID | COSM14122 |
| Chr position(GRCh37) | chr18:48591919 |
| 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℃ |
| Expiry | 36 months from the date of manufacture |
