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PMS2 p.Q781Q Reference Standard

CBP10571

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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.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 2-8℃
Expiry 36 months from the date of manufacture

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