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Panel-Ref? BRCA1/2 Germline Mutation Cocktail III

CBP90025

產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
Introduction
Description 主要包含BRCA1和BRCA2的SNV和indel，用于相關(guān)的試劑盒和Panel檢測(cè)服務(wù)的質(zhì)控。
 
Gene Clinical significance Allele origin MRNA DNA Change AA Change %AF Cosmic ID Chr position (GRCh37)
BRCA1 Benign Germline NM_007300.4 c.4900A>G p.S1634G 100.00% COSM3755559 chr17:41223094
BRCA1 Benign Germline NM_007300.4 c.4308T>C p.S1436= 100.00% COSM4416374 chr17:41234470
BRCA1 Uncertain Significance Germline NM_007300.4 c.3569C>A p.P1190H 50.00% COSM3190048 chr17:41243979
BRCA1 Benign Germline NM_007300.4 c.3548A>G p.K1183R 100.00% COSM148277 chr17:41244000
BRCA1 Benign Germline NM_007300.4 c.3113A>G p.E1038G 100.00% COSM3755562 chr17:41244435
BRCA1 Benign Germline NM_007300.4 c.2612C>T p.P871L 100.00% COSM148278 chr17:41244936
BRCA1 Benign Germline NM_007300.4 c.2311T>C p.L771= 100.00% COSM3755565 chr17:41245237
BRCA1 Benign Germline NM_007300.4 c.2082C>T p.S694= 100.00% N/A chr17:41245466
BRCA1 Uncertain Significance Germline NM_007300.4 c.1988G>A p.S663N 50.00% COSM3190090 chr17:41245560
BRCA2 Benign Germline NM_000059.3 c.865A>C p.N289H 50.00% COSM3999066 chr13:32906480
BRCA2 Uncertain Significance Germline NM_000059.3 c.1365A>G p.S455= 50.00% COSM3999068 chr13:32906980
BRCA2 Uncertain Significance Germline NM_000059.3 c.1460C>T p.A487V 50.00% N/A chr13:32907075
BRCA2 Benign Germline NM_000059.3 c.2229T>C p.H743= 50.00% COSM5019762 chr13:32910721
BRCA2 Benign Germline NM_000059.3 c.2971A>G p.N991D 50.00% COSM4986759 chr13:32911463
BRCA2 Benign Germline NM_000059.3 c.3396A>G p.K1132= 50.00% COSM4415775 chr13:32911888
BRCA2 Pathogenic Germline NM_000059.3 c.3599_3600del p.C1200* 50.00% COSM18623 chr13:32912091
BRCA2 Benign Germline NM_000059.3 c.4068G>A p.L1356= 50.00% COSM9213155 chr13:32912560
BRCA2 Benign Germline NM_000059.3 c.4563A>G p.L1521= 100.00% COSM9180822 chr13:32913055
BRCA2 Pathogenic Germline NM_000059.3 c.5351del p.N1784Tfs*7 50.00% COSM18607 N/A
BRCA2 Benign Germline NM_000059.3 c.6513G>C p.V2171= 100.00% COSM4147689 chr13:32915005
BRCA2 Benign Germline NM_000059.3 c.7397T>C p.V2466A 100.00% COSM7335572 chr13:32929387
BRCA2 Likely Pathogenic Germline NM_000059.3 c.8351G>A p.R2784Q 50.00% N/A chr13:32944558
定標(biāo)方法：500x WES、DdPCR(部分位點(diǎn))
 
Product Information　
Intended Use Research Use Only
Unit Size 1ug/vial * 1 vial
Concentration Download for COA
Purity Download for COA
DNA electrophoresis Download for COA
Storage 2-8°C
Expiry 36 months from the date of manufacture

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