Aliquot Size: 10 µg each

Sex: Males: 7 Females: 3

Brief Description: Some samples in the Human Variation Collection have been assigned a second catalogue number to indicate inclusion in the Human Variation Collection in addition to their original catalogue number. A complete list of the alternative sample numbers can be downloaded as an Excel file.
Hawkins A, Meyers A, Bleecker R, Pack I, Identification Of Coding Polymorphisms In Human Circadian Rhythm Genes Per1, Per2, Per3, Clock, Arntl, Cry1, Cry2 And Timeless In A Multi-ethnic Screening Panel DNA Seq10:1 2007
PubMed ID: 17852344
Melis, R., Lyon, E., and McMillin, G.A., Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays Expert Rev Mol Diagn6(6):811-20 2006
PubMed ID: 17140368
Rudd MK, Wray GA, Willard HF, The evolutionary dynamics of alpha-satellite Genome research16:88-96 2005
PubMed ID: 16344556
Hwa V, Little B, Adiyaman P, Kofoed EM, Pratt KL, Ocal G, Berberoglu M, Rosenfeld RG, Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b The Journal of clinical endocrinology and metabolism90:4260-6 2005
PubMed ID: 15827093
Rieder MJ, Reiner AP, Gage BF, Nickerson DA, Eby CS, McLeod HL, Blough DK, Thummel KE, Veenstra DL, Rettie AE, Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose The New England journal of medicine352:2285-93 2005
PubMed ID: 15930419
Pont-Kingdon G, Lyon E, Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example Nucleic acids research33:e89 2005
PubMed ID: 15937194
Matsuzaki H, Loi H, Dong S, Tsai YY, Fang J, Law J, Di X, Liu WM, Yang G, Liu G, Huang J, Kennedy GC, Ryder TB, Marcus GA, Walsh PS, Shriver MD, Puck JM, Jones KW, Mei R, Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array Genome research14:414-25 2004
PubMed ID: 14993208
Lakhman SS, Ghosh D, Blanco JG, Functional significance of a natural allelic variant of human carbonyl reductase 3 (CBR3) Drug metabolism and disposition: the biological fate of chemicals33:254-7 2004
PubMed ID: 15537833
Noonan JP, Li J, Nguyen L, Caoile C, Dickson M, Grimwood J, Schmutz J, Feldman MW, Myers RM, Extensive linkage disequilibrium, a common 167-kilobase deletion, and evidence of balancing selection in the human protocadherin alpha cluster American journal of human genetics72:621-35 2003
PubMed ID: 12577201

Catalog IDSexAge at SamplingGeneMutation
NA16688Female75 YR  
NA17019Female HLA-BHLA-B*1502 (Mono), HLA-B*1511 (Mono)
NA17019Female HLA-BHLA-B*1502 (Mono), HLA-B*1511 (Mono)
NA16689Male74 YR  
NA16654Male51 YR  
NA17015Male51 YR  
NA17014Male4 YR