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Submitted SNP(ss) Details: ss38349853           
Submitter
HandleEGP_SNPS
Submitter SNP IDPTEN-105493
RefSNP(rs#)rs701848
Submitted Batch IDPTEN-EGP_YORUB-060105
Submitted DateJul 07, 2005
Publication Cited[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNPJul 7 2005 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
GENOMIC
MethodMETHOD-E
Ascertainment Samplesize22
PopulationEGP_YORUB-PANEL
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Homozygote DetectedY
Variation
Frequency Submissionpopulation count: 5
Genotype Summarypopulation count: 5
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss38349853|allelePos=256|len=511|taxid=9606|alleles='C/T'|mol=Genomic
 TACTTGAATA CTGAATACAT ATAATGTTTA TATTAAAAAG GACATTTGTG TTAAAAAGGA
 AATTAGAGTT GCAGTAAACT TTCAATGCTG CACACAAAAA AAAGACATTT GATTTTTCAG
 TAGAAATTGT CCTACATGTG CTTTATTGAT TTGCTATTGA AAGAATAGGG TTTTTTTTTT
 TTTTTTTTTT TTTTTTTTTA AATGTGCAGT GTTGAATCAT TTCTTCATAG TGCTCCCCCG
 AGTTGGGACT AGGGC
 Y
 TCAATTTCAC TTCTTAAAAA AAATCATCAT ATATTTGATA TGCCCAGACT GCATACGATT
 TTAAGCGGAG TACAACTACT ATTGTAAAGC TAATGTGAAG ATATTATTAA AAAGGTTTTT
 TTTTCCAGAA ATTTGGTGTC TTCAAATTAT ACCTTCACCT TGACATTTGA ATATCCAGCC
 ATTTTGTTTC TTAATGGTAT AAAATTCCAT TTTCAATAAC TTATTGGTGC TGAAATTGTT
 CACTAGCTGT GGTCT

  Submitted Frequency for ss38349853 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
EGP_CEPH-PANEL44T=0.70454502
C=0.29545501
PTEN-EGP_CEPH-060105EGP_SNPS
EGP_HISP-PANEL44T=0.68181801
C=0.31818199
PTEN-EGP_HISP-060105EGP_SNPS
EGP_ASIAN-PANEL48T=0.58333302
C=0.41666701
PTEN-EGP_ASIAN-060105EGP_SNPS
EGP_AD-PANEL30T=0.76666701
C=0.23333301
PTEN-EGP_AD-060105EGP_SNPS
EGP_YORUB-PANEL22T=0.81818199
C=0.18181799
PTEN-EGP_YORUB-060105EGP_SNPS


  dbSNP summary of Genotypes for ss38349853 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
EGP_YORUB-PANEL2222T=0.81818181
C=0.18181819T/T=0.72727275
C/T=0.18181819
C/C=0.09090909
Pr(chiSq=1.664,df=1)
=0.200
Genotype
Freq.
EGP_HISP-PANEL4444T=0.68181819
C=0.31818181C/T=0.54545456
T/T=0.40909091
C/C=0.04545455
Pr(chiSq=1.455,df=1)
=0.251
Genotype
Freq.
EGP_CEPH-PANEL4444T=0.70454544
C=0.29545453T/T=0.54545456
C/T=0.31818181
C/C=0.13636364
Pr(chiSq=1.223,df=1)
=0.273
Genotype
Freq.
EGP_AD-PANEL3030T=0.76666665
C=0.23333333T/T=0.60000002
C/T=0.33333334
C/C=0.06666667
Pr(chiSq=0.070,df=1)
=1.000
Genotype
Freq.
EGP_ASIAN-PANEL4848T=0.58333331
C=0.41666666C/T=0.58333331
T/T=0.29166666
C/C=0.12500000
Pr(chiSq=0.960,df=1)
=0.343
Genotype
Freq.

  Submitted individual genotype for ss38349853 back to top
There is no individual genotype data for ss38349853.