名稱 | PMS2 p.E491K Reference Standard 標(biāo)準(zhǔn)品 |
型號 | CBP10574 |
報價 | 900 |
特點(diǎn) | PMS2 p.E491K Reference Standard |
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Email: zhangxiangwen@cobioer.com
電話:4008750250
號碼:
手機(jī):18066071954
地址:南京市棲霞區(qū)緯地路9號
Email: zhangxiangwen@cobioer.com
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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10574PMS2 p.E491K Reference Standard 標(biāo)準(zhǔn)品
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CBP10574 | |
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.1471G>A |
AA Change | p.E491K |
Mutation type | Missense_Mutation |
Zygosity | Heterozygous |
Allelic Frequency | 75% |
Transcript | NM_000535.7 |
Cosmic ID | COSM1196399 |
Chr position(GRCh37) | chr7:6026925 |
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 |