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BRCA2 p.S1982fs*22 Reference Standard

CBP10389

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產(chǎn)品描述
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Introduction
Format Genomic DNA
Description BRCA2 S1982fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1982 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). S1982fs has not been characterized, however, due to the effects of other truncations downstream of S1982 (PMID: 12619154, PMID: 15695382), S1982fs is predicted to lead to a loss of Brca2 protein function.
   
Technical Data
DNA Change c.5946delT
AA Change p.S1982fs*22
Mutation type Frame_Shift_Del
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript ENST00000380152
Cosmic ID COSM26515
Chr position(GRCh37) chr13:32914438
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°C
Expiry 36 months from the date of manufacture

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