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Submitted SNP(ss) Details: ss28531395           
Submitter
HandleEGP_SNPS
Submitter SNP IDCYP2C19-001198
RefSNP(rs#)rs12248560
Submitted Batch IDCYP2C19-PDR90-110104
Submitted DateNov 08, 2004
Publication Cited[1] NIEHS-SNPs, Environmental Genome Project, NIEHS ES15478.
First entry to dbSNPNov 8 2004 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
GENOMIC
MethodMETHOD-E
Ascertainment Samplesize170
PopulationPDR90
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginT:Germline A:Germline C:Germline
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Homozygote DetectedY
Variation
Frequency Submissionpopulation count: 1
Genotype Summarypopulation count: 1
Genotype Submissionindividual count: 90
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss28531395|allelePos=256|len=511|taxid=9606|alleles='C/T'|mol=Genomic
 TCCTTCAGTT ACACTGAGCG TTTCCCCTCT GCAGTGATGG AGAAGGGAGA ACTCTTATTT
 TTTCTCATGA GCATCTCTGG GGCTGTTTTC CTTAGATAAA TAAGTGGTTC TATTTAATGT
 GAAGCCTGTT TTATGAACAG GATGAATGTG GTATATATTC AGAATAACTA ATGTTTGGAA
 GTTGTTTTGT TTTGCTAAAA CAAAGTTTTA GCAAACGATT TTTTTTTTTC AAATTTGTGT
 CTTCTGTTCT CAAAG
 Y
 ATCTCTGATG TAAGAGATAA TGCGCCACGA TGGGCATCAG AAGACCTCAG CTCAAATCCC
 AGTTCTGCCA GCTATGAGCT GTGTGGCACC AACAGGTGTC CTGTTCTCCC AGGGTCTCCC
 TTTTCCCATT TGAAATATAA AAAATAACAA TTCCTGCCTT CACGTGTTTT TTTAGGGGGT
 TAAATGGTAA AGGTGTTTAT ATCTGCTAAG GTAATTTACT TGATATATGT TTGGTTATTG
 AAGATATATG AGTTA

  Submitted Frequency for ss28531395 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
PDR90170C=0.81176502
T=0.18823500
CYP2C19-PDR90-110104EGP_SNPS


  dbSNP summary of Genotypes for ss28531395 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
PDR90170170C=0.81176472
T=0.18823530C/C=0.67058825
C/T=0.28235295
T/T=0.04705882
Pr(chiSq=0.492,df=1)
=0.527
Genotype
Freq.

  Submitted individual genotype for ss28531395 back to top

Submitter:EGP_SNPSBatch:CYP2C19-PDR90-110104
  
Population ID
-Class
Individual By Genotype
C/CC/TN/NT/T
PDR90P002P004P005P007P001P003P029P025
P008P010P011P012P006P009P039P038
P013P014P015P016P018P027P069P040
P017P019P020P021P028P030P072P051
P022P023P024P026P043P046P076
P031P032P033P034P050P053
P035P036P037P041P055P057
P042P044P045P047P059P060
P048P049P052P054P068P077
P056P058P061P062P081P082
P063P064P065P066P083P086
P067P070P071P073P087P089
P074P075P078P079
P080P084P085P088
P090
Sample(N): 90572454

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