MLH1 p.R226* Reference Standard
CBP10590
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| Introduction | |
| Format | Genomic DNA |
| Description | MLH1, mutL homolog 1, is a tumor suppressor that dimerizes with Pms2 to form a component of the DNA mismatch repair (MMR) system, and is associated with microsatellite instability (MSI) and genomic stability. MLH1 promoter hypermethylation, resulting in Mlh1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers, and germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome. |
| Technical Data | |
| DNA Change | c.676C>T |
| AA Change | p.R226* |
| Mutation type | Splice_Site |
| Zygosity | N/A |
| Allelic Frequency | N/A |
| Transcript | NM_000249.4 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr3-37053589-C-T |
| 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 |
