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基因检测标准品 > Mutation > CBP10594PMS2 p.R315* Reference Standard

PMS2 p.R315* Reference Standard
名称 PMS2 p.R315* Reference Standard
型号 CBP10594
报价
特点 PMS2 p.R315* Reference Standard
  • 详细内容
 CBP10594
FormatGenomic DNA
DescriptionPMS2, 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 Changec.943C>T
AA Changep.R315*
Mutation typeNonsense_Mutation
ZygosityN/A
Allelic FrequencyN/A
TranscriptNM_000535.7
Cosmic IDN/A
Chr position(GRCh37)chr7-6031649-G-A
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencingDownload for COA
Storage4℃
Expiry36 months from the date of manufacture

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