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Submitted SNP(ss) Details: ss52078378           
Submitter
HandleSI_EXO
Submitter SNP IDNT_034880.3_2893444
RefSNP(rs#)rs3818276
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 Samplesize43
PopulationN.D.
Allele
Observed AlleleA/G
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:MHo2Estimated_frequency:.12Minor_allele:A

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss52078378|allelePos=401|len=801|taxid=9606|alleles='A/G'|mol=Genomic
 CATATCTGGA GTCTGAGCTT TAAGACCTTG ATCGAGCCTG AGGGCTGCAG CTTCAGACTT
 GCCCTGTAGG TGGCAGGGCG GATGCCAGGC GCCCAGGGAC ACGAGGCCAC CCAATGGATG
 TCAAGCAGGA GGGGCAGGGA CAGAAAGGCC CCACGGCTGC AGACGCGGGA GGCCCCGAGC
 CGGAGACGCT CGTGTGAACA CAGGCGCTGC TCCTGTCACG GCCCCTTACT CGCCTTGCTG
 ACTTTAAACA GTCTCTCCTC GGTGTTCTCC TTGTCAAACT GTTCATCCCA GTTTCCTCTG
 AAATAGACAG CATTCACCAG AACCAGCCTT GTCAATGGAT CCACTGAGCC CGGAGAGAGC
 AACTCCGCAA TTTTACCTGA GCGGAAGAAT TCAAGACCGC
 R
 TTAGATAGGG GCGGCTGCGG ATCCCCGACA CATCAGGAAT CGGCTGGGGC CTTCTCCTTC
 AGCAGTCAAG TGCACGGATA GAGAGTTCCA CTGTCCCCCA AATATAAAGG GATACGTGTC
 CTTAAAGCAA AACAACAAAA TCTTCTGGTA CGAAAAACAT CATCAATTGA ATAAAACACA
 CAAAGTGAAC AAATATGCGT TAATTATGCA GGATGAGTTC CTAACACATG AGATAAGAAG
 CAATCATGGG TGCCTATGAC TTAAAGACAA GAACTTAAAG GATTATCAAA AAGGTGGGCA
 GTCAGAAGAT GTTCTTTACA AGCTTAAAGA ACAGTTAGGC CAGACACAGT GGCTCACACC
 TATAATTCCA GCAGTTTGGG AGGCTGAGGT GTGAGGATCA

  Submitted Frequency for ss52078378 back to top
There is no frequency submission for ss52078378.


  dbSNP summary of Genotypes for ss52078378 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-CEU226226G=0.84955752
A=0.15044248G/G=0.73451328
A/G=0.23008850
A/A=0.03539823
Pr(chiSq=1.127,df=1)
=0.294
Genotype
Freq.
HapMap-HCB
EAST ASIA
8686G=0.94186044
A=0.05813954G/G=0.88372093
A/G=0.11627907
Pr(chiSq=0.018,df=1)
=1.000
Genotype
Freq.
HapMap-JPT172172G=0.95930231
A=0.04069768G/G=0.91860467
A/G=0.08139535
Pr(chiSq=0.012,df=1)
=1.000
Genotype
Freq.
HapMap-YRI226226G=0.90707964
A=0.09292036G/G=0.82300884
A/G=0.16814159
A/A=0.00884956
Pr(chiSq=0.001,df=1)
=1.000
Genotype
Freq.
HAPMAP-ASW9898G=0.92857140
A=0.07142857G/G=0.85714287
A/G=0.14285715
Pr(chiSq=0.040,df=1)
=1.000
Genotype
Freq.
HAPMAP-CHB8282G=0.93902439
A=0.06097561G/G=0.87804878
A/G=0.12195122
Pr(chiSq=0.020,df=1)
=1.000
Genotype
Freq.
HAPMAP-CHD170170G=0.99411762
A=0.00588235G/G=0.98823529
A/G=0.01176471
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.
HAPMAP-GIH176176G=0.95454544
A=0.04545455G/G=0.90909094
A/G=0.09090909
Pr(chiSq=0.018,df=1)
=1.000
Genotype
Freq.
HAPMAP-LWK180180G=0.89444447
A=0.10555556G/G=0.80000001
A/G=0.18888889
A/A=0.01111111
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.
HAPMAP-MEX100100G=0.88000000
A=0.12000000G/G=0.77999997
A/G=0.20000000
A/A=0.02000000
Pr(chiSq=0.141,df=1)
=0.752
Genotype
Freq.
HAPMAP-MKK286286G=0.87762237
A=0.12237762G/G=0.76223779
A/G=0.23076923
A/A=0.00699301
Pr(chiSq=0.790,df=1)
=0.403
Genotype
Freq.
HAPMAP-TSI176176G=0.85795456
A=0.14204545G/G=0.72727275
A/G=0.26136363
A/A=0.01136364
Pr(chiSq=0.460,df=1)
=0.527
Genotype
Freq.

  Submitted individual genotype for ss52078378 back to top
There is no individual genotype data for ss52078378.

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