名稱 | PMS2 p.Q781Q Reference Standard 標(biāo)準(zhǔn)品 |
型號(hào) | CBP10571 |
報(bào)價(jià) | 900 |
特點(diǎn) | PMS2 p.Q781Q Reference Standard |
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10571PMS2 p.Q781Q Reference Standard 標(biāo)準(zhǔn)品

- 詳細(xì)內(nèi)容
CBP10571 | |
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.2343G>A |
AA Change | p.Q781Q |
Mutation type | Silent |
Zygosity | Heterozygous |
Allelic Frequency | 50% |
Transcript | NM_000535.7 |
Cosmic ID | COSM3084698 |
Chr position(GRCh37) | chr7:6017321 |
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 | 4℃ |
Expiry | 36 months from the date of manufacture |