PMS2 p.E504Q Reference Standard
CBP10573
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| Introduction | |
| Format | Genomic DNA |
| Description | PMS2, PMS1 homolog 2, mismatch repair system component, interacts with MLH1 to form the MutL-alpha complex, which functions in DNA mismatch repair and is associated with microsatellite instability (MSI) and genomic stability. Germline PMS2 mutations are associated with Lynch syndrome , mutations in PMS2 are associated with susceptibility to colon cancer and endometrial cancer, and overexpression has been reported in prostate cancer. |
| Technical Data | |
| DNA Change | c.1510G>C |
| AA Change | p.E504Q |
| Mutation type | Missense_Mutation |
| Zygosity | Heterozygous |
| Allelic Frequency | 66.67% |
| Transcript | NM_000535.7 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr7:6026886 |
| 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 |
