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    首頁(yè) /診斷試劑 /腫瘤標準品 /Panel /Panel-Ref? BRCA1/2 Germline Mutation Cocktail III

    Panel-Ref? BRCA1/2 Germline Mutation Cocktail III

    CBP90025

    產(chǎn)品描述
    產(chǎn)品數據庫
    Introduction
    專(zhuān)利 該產(chǎn)品開(kāi)發(fā)基于我們<<一種用于DNA同源重組修復基因檢測的標準品及其制備方法>>專(zhuān)利轉化
    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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    診斷標準品聯(lián)系方式： 華東銷(xiāo)售經(jīng)理：15000320447 華北銷(xiāo)售經(jīng)理：18628311252 華中&華西銷(xiāo)售經(jīng)理：18071545918 華中&西南銷(xiāo)售經(jīng)理：13871580511 全國銷(xiāo)售經(jīng)理：13816461235

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