U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Coriell GM12815

Identifiers
BioSample: SAMN00801774; BioSample: SAMN00001568; SRA: SRS000085; Coriell: GM12815; 1000G: NA12815; HapMap: NA12815
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 id1454
raceCaucasian
family rolematernal grandmother
cell lineGM12815
Population DescriptionUtah Residents (CEPH) with Northern and Western European ancestry
cell typeB-Lymphocyte
Super Population DescriptionEuropean
Super Population CodeEUR
culture collectionCoriell:GM12815
ethnicityUTAH/MORMON
populationCEU
sexfemale
Coriell plateHAPMAPPT01
DNA-IDNA12815
collectionNIGMS Human Genetic Cell Repository
HapMap sample IDNA12815
Tags
Ceph/utah pedigree 1454
Description

Maternal Grandmother;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
BioProjects
PRJEB31736 1000 Genomes Project phase 3: 30X coverage whole genome sequencing
Retrieve all samples from this project

PRJNA325679
Retrieve all samples from this project

PRJNA262923 Homo sapiens
Retrieve all samples from this project

PRJNA211074 Homo sapiens
Retrieve all samples from this project

PRJNA177916 Homo sapiens
Retrieve all samples from this project

PRJNA59853 Homo sapiens strain:(CEU) CEPH HapMap population
Retrieve all samples from this project

PRJNA50323 Homo sapiens strain:N/A
Retrieve all samples from this project

PRJNA33831 Homo sapiens strain:(CEU) CEPH HapMap population
Retrieve all samples from this project

PRJNA28917 Homo sapiens
Retrieve all samples from this project

PRJNA28911 Homo sapiens
Retrieve all samples from this project

Submission
Coriell; 2012-03-05
Accession:
SAMN00801774
ID:
801774

Supplemental Content

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center