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    NA12717 DNA from LCL
    Coriell人類基因組DNA標準品NA12717

    產品品牌:Coriell Institute
    產品貨號:NA12717
    產品規格:25 μg
    產品價格:咨詢
    資料下載:點擊下載

    產品介紹

    Coriell人類基因組DNA標準品NA12717

    Description:CEPH/UTAH PEDIGREE 1358

    INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
    CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19
    INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]
    NA CUSTOM SERVICE PLATE 01

    Affected:No Data

    Sex:Female

    Age:No Data

    Repository:NIGMS Human Genetic Cell Repository

    Subcollection:CEPH
                               Repository Linkage Families
                               Pharmacogenetics
                               PIGI Consented Sample

    Quantity:25 μg

    Biopsy Source:Peripheral vein

    Cell Type:B-Lymphocyte

    Tissue Type:Blood

    Transformant:Epstein-Barr Virus

    Race:White

    Ethnicity:UTAH/MORMON

    Country of Origin:USA

    Family Member:12

    Relation to Proband:paternal grandmother

    Confirmation:Clinical summary/Case history

    Species:Homo sapiens

    Common NameHuman

    Remarks:Paternal Grandmother; donor subject is homozygous for a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream, resulting in a truncated, nonfunctional protein. Because of the aberrant splice site, a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682), resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.

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