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Coriell GM12043

Identifiers
BioSample: SAMN00801099; SRA: SRS000060; Coriell: GM12043; 1000G: NA12043; HapMap: NA12043
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 id1346
raceCaucasian
family rolepaternal grandfather
cell lineGM12043
Population DescriptionUtah Residents (CEPH) with Northern and Western European ancestry
cell typeB-Lymphocyte
Super Population DescriptionEuropean
Super Population CodeEUR
culture collectionCoriell:GM12043
ethnicityUTAH/MORMON
populationCEU
sexmale
Coriell plateHAPMAPPT01
DNA-IDNA12043
collectionNIGMS Human Genetic Cell Repository
HapMap sample IDNA12043
Tags
Ceph/utah pedigree 1346
Description

Paternal Grandfather;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L)

Links
dbSNP Batch ID 1061891
BioProjects
PRJEB31736 1000 Genomes Project phase 3: 30X coverage whole genome sequencing
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PRJNA325679
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PRJNA271692 Homo sapiens
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PRJNA262923 Homo sapiens
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PRJNA211074 Homo sapiens
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PRJNA59853 Homo sapiens strain:(CEU) CEPH HapMap population
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PRJNA50323 Homo sapiens strain:N/A
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PRJNA33831 Homo sapiens strain:(CEU) CEPH HapMap population
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PRJNA28917 Homo sapiens
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PRJNA28911 Homo sapiens
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Submission
Coriell; 2012-03-05
Accession:
SAMN00801099
ID:
801099

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