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Submitted SNP(ss) Details: ss52074234           
Submitter
HandleSI_EXO
Submitter SNP IDNT_034880.3_2893251
RefSNP(rs#)rs2244693
Submitted Batch IDSI_EXO_20060323
Submitted DateMar 29, 2006
Publication Cited[1] A SNP-survey of human exons in 48 CEPH samples
First entry to dbSNPMar 29 2006 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodSI_EXOSEQ_1
Ascertainment Samplesize40
PopulationN.D.
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency SubmissionN.D.
Genotype Summarypopulation count: 13
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
ExoSeq_class:SHW2Estimated_frequency:.31Minor_allele:T

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss52074234|allelePos=401|len=801|taxid=9606|alleles='C/T'|mol=Genomic
 TGTCAGAGAG TCCTCCCTGC TCAGCCTCAA TTCAGCAGGC TGAGTTGTTC CGCTCCTGCA
 GTGTGGCACG GAGGCCAGCA GGAGGCGCGG TAGCGGGGCT TCCCGGGACG CCGCCAGAAA
 GAAAGGAGTG GGTAGGTCCT GATGGGAATG AAGCTAGAGA AAAGGAGGAA ATGTCCGCTA
 GAAGATGGCA CGCCATATCT GGAGTCTGAG CTTTAAGACC TTGATCGAGC CTGAGGGCTG
 CAGCTTCAGA CTTGCCCTGT AGGTGGCAGG GCGGATGCCA GGCGCCCAGG GACACGAGGC
 CACCCAATGG ATGTCAAGCA GGAGGGGCAG GGACAGAAAG GCCCCACGGC TGCAGACGCG
 GGAGGCCCCG AGCCGGAGAC GCTCGTGTGA ACACAGGCGC
 Y
 GCTCCTGTCA CGGCCCCTTA CTCGCCTTGC TGACTTTAAA CAGTCTCTCC TCGGTGTTCT
 CCTTGTCAAA CTGTTCATCC CAGTTTCCTC TGAAATAGAC AGCATTCACC AGAACCAGCC
 TTGTCAATGG ATCCACTGAG CCCGGAGAGA GCAACTCCGC AATTTTACCT GAGCGGAAGA
 ATTCAAGACC GCATTAGATA GGGGCGGCTG CGGATCCCCG ACACATCAGG AATCGGCTGG
 GGCCTTCTCC TTCAGCAGTC AAGTGCACGG ATAGAGAGTT CCACTGTCCC CCAAATATAA
 AGGGATACGT GTCCTTAAAG CAAAACAACA AAATCTTCTG GTACGAAAAA CATCATCAAT
 TGAATAAAAC ACACAAAGTG AACAAATATG CGTTAATTAT

  Submitted Frequency for ss52074234 back to top
There is no frequency submission for ss52074234.


  dbSNP summary of Genotypes for ss52074234 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
HapMap-CEU226226C=0.70353985
T=0.29646018C/C=0.49557522
C/T=0.41592920
T/T=0.08849557
Pr(chiSq=0.001,df=1)
=1.000
Genotype
Freq.
HapMap-HCB
EAST ASIA
8686C=0.80232561
T=0.19767442C/C=0.65116280
C/T=0.30232558
T/T=0.04651163
Pr(chiSq=0.095,df=1)
=1.000
Genotype
Freq.
HapMap-JPT170170C=0.78823531
T=0.21176471C/C=0.64705884
C/T=0.28235295
T/T=0.07058824
Pr(chiSq=2.022,df=1)
=0.200
Genotype
Freq.
HapMap-YRI226226T=0.60619467
C=0.39380530C/T=0.50442475
T/T=0.35398230
C/C=0.14159292
Pr(chiSq=0.361,df=1)
=0.584
Genotype
Freq.
HAPMAP-ASW9898T=0.54081631
C=0.45918366C/T=0.42857143
T/T=0.32653061
C/C=0.24489796
Pr(chiSq=0.921,df=1)
=0.343
Genotype
Freq.
HAPMAP-CHB8282C=0.84146339
T=0.15853658C/C=0.75609756
C/T=0.17073171
T/T=0.07317073
Pr(chiSq=5.316,df=1)
=0.025
Genotype
Freq.
HAPMAP-CHD170170C=0.82941175
T=0.17058824C/C=0.67058825
C/T=0.31764707
T/T=0.01176471
Pr(chiSq=1.276,df=1)
=0.273
Genotype
Freq.
HAPMAP-GIH176176C=0.68181819
T=0.31818181C/C=0.45454547
C/T=0.45454547
T/T=0.09090909
Pr(chiSq=0.200,df=1)
=0.752
Genotype
Freq.
HAPMAP-LWK180180T=0.55555558
C=0.44444445C/T=0.57777780
T/T=0.26666668
C/C=0.15555556
Pr(chiSq=2.601,df=1)
=0.150
Genotype
Freq.
HAPMAP-MEX9898C=0.73469388
T=0.26530612C/C=0.53061223
C/T=0.40816328
T/T=0.06122449
Pr(chiSq=0.108,df=1)
=0.752
Genotype
Freq.
HAPMAP-MKK286286C=0.58741260
T=0.41258740C/T=0.48951048
C/C=0.34265736
T/T=0.16783217
Pr(chiSq=0.014,df=1)
=1.000
Genotype
Freq.
HAPMAP-TSI176176C=0.71590906
T=0.28409091C/C=0.47727272
C/T=0.47727272
T/T=0.04545455
Pr(chiSq=2.644,df=1)
=0.150
Genotype
Freq.

  Submitted individual genotype for ss52074234 back to top
There is no individual genotype data for ss52074234.

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