title: GM07348 female unaffected Human variation panel - european caucasian panel of 16 sample
organism: Homo sapiens
description: Mother;donor subject has 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.
attributes.tag: cell_line
attributes.value: GM07348
attributes.tag: DNA-ID
attributes.value: NA07348
attributes.tag: sex
attributes.value: Female
attributes.tag: cell_type
attributes.value: B-Lymphocyte
attributes.tag: family_id
attributes.value: 1345
attributes.tag: family_role
attributes.value: mother
attributes.tag: Race
attributes.value: Caucasian
attributes.tag: Ethnicity
attributes.value: UTAH/MORMON
attributes.tag: collection
attributes.value: NIGMS Human Genetic Cell Repository
attributes.tag: tag
attributes.value: Human variation panel - european caucasian panel of 8
attributes.tag: tag
attributes.value: Cytochrome p450, subfamily iic, polypeptide 19
attributes.tag: tag
attributes.value: Snp500 panel
attributes.tag: tag
attributes.value: Cyp2c19
attributes.tag: tag
attributes.value: Human variation panel - european caucasian panel of 24
attributes.tag: tag
attributes.value: Human variation panel - european caucasian panel of 16
attributes.tag: tag
attributes.value: International hapmap project - ceph utah residents with ancestry from northern and western europe
attributes.tag: tag
attributes.value: Ceph/utah pedigree 1345
attributes.tag: tag
attributes.value: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe