HD50AA HUMAN VARIATION PANEL

Description: HUMAN VARIATION PANEL - AFRICAN AMERICAN PANEL OF 50

Aliquot Size: 10 µg each

Sex: Males: 14 Females: 36

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.
Knappskog S, Gansmo LB, Romundstad P, Bjørnslett M, Trovik J, Sommerfelt-Pettersen J, Løkkevik E, Norwegian Breast Cancer Group trial NBCG VI E, Tollenaar RA, Seynaeve C, Devilee P, Salvesen HB, Dørum A, Hveem K, Vatten L, Lønning PE, MDM2 promoter SNP344T>A (rs1196333) status does not affect cancer risk PloS one7:e36263 2012
PubMed ID: 22558411
 
Pakstis AJ, Speed WC, Fang R, Hyland FC, Furtado MR, Kidd JR, Kidd KK, SNPs for a universal individual identification panel Human genetics127(3):315-24 2010
PubMed ID: 19937056
 
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
 
Medici M, van Meurs JB, Rivadeneira F, Zhao H, Arp PP, Hofman A, Pols HA, Uitterlinden AG, BMP-2 gene polymorphisms and osteoporosis: the Rotterdam Study Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research21:845-54 2006
PubMed ID: 16753015
 
Zhao C, Gustafsson JA, Dahlman-Wright K, Functional characterization of a novel variant of estrogen receptor beta identified in screening of DNA derived from African Americans Pharmacogenetics and genomics16:379-83 2006
PubMed ID: 16609371
 
Barnes KC, Grant AV, Baltadzhieva D, Zhang S, Berg T, Shao L, Zambelli-Weiner A, Anderson W, Nelsen A, Pillai S, Yarnall DP, Dienger K, Ingersoll RG, Scott AF, Fallin MD, Mathias RA, Beaty TH, Garcia JG, Wills-Karp M, Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families Genes and immunity7:27-35 2005
PubMed ID: 16355111
 
Fang Y, van Meurs JB, d'Alesio A, Jhamai M, Zhao H, Rivadeneira F, Hofman A, van Leeuwen JP, Jehan F, Pols HA, Uitterlinden AG, Promoter and 3'-untranslated-region haplotypes in the vitamin d receptor gene predispose to osteoporotic fracture: the rotterdam study. Am J Hum Genet77(5):807-23 2005
PubMed ID: 16252240
 
Murray SS, Oliphant A, Shen R, McBride C, Steeke RJ, Shannon SG, Rubano T, Kermani BG, Fan JB, Chee MS, Hansen MS, A highly informative SNP linkage panel for human genetic studies Nature methods1:113-7 2004
PubMed ID: 15782173
 
Stenzel A, Lu T, Koch WA, Hampe J, Guenther SM, De La Vega FM, Krawczak M, Schreiber S, Patterns of linkage disequilibrium in the MHC region on human chromosome 6p Human genetics114:377-85 2004
PubMed ID: 14740295
 
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
 
Lerman C, Wileyto EP, Patterson F, Rukstalis M, Audrain-McGovern J, Restine S, Shields PG, Kaufmann V, Redden D, Benowitz N, Berrettini WH, The functional mu opioid receptor (OPRM1) Asn40Asp variant predicts short-term response to nicotine replacement therapy in a clinical trial The pharmacogenomics journal4:184-92 2004
PubMed ID: 15007373
 
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
 
Avi-Itzhak HI, Su X, De La Vega FM, Selection of minimum subsets of single nucleotide polymorphisms to capture haplotype block diversity Pacific Symposium on Biocomputing Pacific Symposium on Biocomputing72:466-77 2003
PubMed ID: 12603050
 
Ueyama H, Li YH, Fu GL, Lertrit P, Atchaneeyasakul LO, Oda S, Tanabe S, Nishida Y, Yamade S, Ohkubo I, An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency Proceedings of the National Academy of Sciences of the United States of America100:3357-62 2003
PubMed ID: 12626747
 
Wu X, Luke A, Rieder M, Lee K, Toth EJ, Nickerson D, Zhu X, Kan D, Cooper RS, An association study of angiotensinogen polymorphisms with serum level and hypertension in an African-American population Journal of hypertension21:1847-52 2003
PubMed ID: 14508190
 
Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH, The GPR54 gene as a regulator of puberty The New England journal of medicine349:1614-27 2003
PubMed ID: 14573733
 
Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, Ratain MJ, Di Rienzo A, Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics12(9):725-33 2002
PubMed ID: 12464801

Catalog IDSexAge at SamplingGeneMutation
NA17123Female49 YR  
     
NA17129Female48 YRUGT1A15 TA Repeats (Mono), 6 TA Repeats (Mono)
    5 TA Repeats (Mono), 6 TA Repeats (Mono)
NA17110Female45 YR  
     
NA17124Female44 YR  
     
NA17113Female40 YRUGT1A16 TA Repeats (Bi)
    6 TA Repeats (Bi)
NA17112Female39 YR  
     
NA17149Female38 YR  
     
NA17145Female37 YR  
     
NA17136Female36 YR  
NA17141Female36 YR  
NA17136Female36 YR  
NA17141Female36 YR  
NA17120Female35 YRUGT1A15 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17128Female35 YR  
NA17133Female35 YR  
NA17120Female35 YRUGT1A15 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17128Female35 YR  
NA17133Female35 YR  
NA17140Female34 YR  
     
NA17132Female33 YR  
NA17139Female33 YRUGT1A15 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17132Female33 YR  
NA17139Female33 YRUGT1A15 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17150Female32 YR  
     
NA17118Female31 YRUGT1A17 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17148Female31 YR  
NA17118Female31 YRUGT1A17 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17148Female31 YR  
NA17121Female30 YR  
     
NA17119Female29 YRUGT1A16 TA Repeats (Mono), 8 TA Repeats (Mono)
    6 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17137Female27 YR  
     
NA17116Female26 YR  
NA17142Female26 YR  
NA17116Female26 YR  
NA17142Female26 YR  
NA17126Female25 YR  
NA17134Female25 YR  
NA17126Female25 YR  
NA17134Female25 YR  
NA17130Female24 YRUGT1A16 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17131Female24 YRUGT1A15 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17138Female24 YR  
NA17130Female24 YRUGT1A16 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17131Female24 YRUGT1A15 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17138Female24 YR  
NA17144Female21 YR  
     
NA17135Female20 YR  
NA17143Female20 YR  
NA17147Female20 YR  
NA17135Female20 YR  
NA17143Female20 YR  
NA17147Female20 YR  
NA17146Female19 YR  
     
NA17122Female18 YR  
     
NA17127Female UGT1A15 TA Repeats (Mono), 8 TA Repeats (Mono)
    5 TA Repeats (Mono), 8 TA Repeats (Mono)
NA17104Male9 YR  
     
NA17105Male58 YR  
     
NA17111Male47 YR  
     
NA17102Male43 YR  
     
NA17103Male41 YR  
     
NA17109Male39 YR  
     
NA17125Male38 YR  
     
NA17108Male36 YR  
     
NA17117Male35 YR  
     
NA17107Male32 YR  
     
NA17115Male31 YRHLA-B, UGT1A17 TA Repeats (Bi), HLA-B*5703 (Mono)
    7 TA Repeats (Bi), HLA-B*5703 (Mono)
NA17101Male28 YR  
     
NA17114Male20 YRUGT1A16 TA Repeats (Mono), 7 TA Repeats (Mono)
    6 TA Repeats (Mono), 7 TA Repeats (Mono)
NA17106Male11 YR