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POLD1 p.P116Hfs*53 Reference Standard

CBP10738

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Introduction 
Format Genomic DNA
Description POLD1, DNA polymerase delta 1, catalytic subunit, is the catalytic subunit and the largest of four subunits that form the DNA polymerase delta holoenzyme, which mediates DNA replication and repair. Germline and somatic mutations in POLD1 have been identified in a variety of human cancers, including colorectal cancer and lung cancer, and may be associated with high tumor mutational burden and response to immunotherapy.
   
Technical Data 
DNA Change c.342del
AA Change p.P116Hfs*53
Mutation type Deletion - Frameshift
Zygosity Heterozygous
Allelic Frequency 66.67%  (NGS)
Transcript ENST00000440232.2
Cosmic ID COSM1395444
Chr position(GRCh37) chr19:50905060
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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