B2M p.R117* Reference Standard
CBP10634
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產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| Format | Genomic DNA |
| Description | B2M, beta-2-microglobulin, forms the light chain of the class I major histocompatibility complex (MHC) and is required for antigen presentation during the immune response. B2M loss of function mutations have been associated with mismatch repair (MMR) deficiency in colon cancer and with acquired resistance to immune checkpoint inhibitors in melanoma . |
| Technical Data | |
| DNA Change: | c.349C>T |
| AA Change | p.R117* |
| Mutation type | Substitution - Nonsense |
| Zygosity | Heterozygous |
| Allelic Frequency | 46.3% |
| Transcript | N/A |
| Cosmic ID | COSM279094 |
| Chr position(GRCh37) | chr15:45008529 |
| 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 |
