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Coriell GM12878

Identifiers
BioSample: SAMN00801888; SRA: SRS000090; Coriell: GM12878; 1000G: NA12878; HapMap: NA12878
Organism
Homo sapiens (human)
cellular organisms; Eukaryota; Opisthokonta; Metazoa; Eumetazoa; Bilateria; Deuterostomia; Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
Attributes
family id1463
raceCaucasian
family rolemother
cell lineGM12878
Population DescriptionUtah Residents (CEPH) with Northern and Western European ancestry
cell typeB-Lymphocyte
Super Population DescriptionEuropean
Super Population CodeEUR
culture collectionCoriell:GM12878
ethnicityUTAH/MORMON
populationCEU
sexfemale
Coriell plateHAPMAPPT01
DNA-IDNA12878
collectionNIGMS Human Genetic Cell Repository
HapMap sample IDNA12878
Tags
Ceph/utah pedigree 1463
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.

Links
dbSNP Batch ID 1061891
Submission
Coriell; 2012-03-05
Accession:
SAMN00801888
ID:
801888

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