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Submitted SNP(ss) Details: ss48399204           
Submitter
HandleEGP_SNPS
Submitter SNP IDSLC4A2-004449
RefSNP(rs#)rs35809269
Submitted Batch IDSLC4A2-EGP_YORUB-090605
Submitted DateSep 07, 2005
Publication Cited[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNPSep 7 2005 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
GENOMIC
MethodMETHOD-E
Ascertainment Samplesize22
PopulationEGP_YORUB-PANEL
Allele
Observed Allele-/TGTGAGTGTG
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassDIV
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|ss48399204|allelePos=256|len=511|taxid=9606|alleles='-/TGTGAGTGTG'|mol=Genomic
 CCTCCCAGGG CTCTCGATGG TGATCAGGCC TCTCCCCCAT CCAGGTTATG CCTCCGCCTC
 GTTGCCCTGA AAGCCGCAGC GACAGCGAAA AGGGCTAAGA TTCGGCCATG AGCAGCGCCC
 CTCGGCGCCC CGCCAAGGGC GCAGATTCTT TCTGTACGGT GAGTGTGGCC CCCAGGTCGC
 CAGCCCAACC TTCCCTCCCT GGGCAGCCTT GGGTGCTCCG GCCAAGGGTC CTCGCCAACC
 AGGGGTGTGA GCGTG
 N
 GAGACTGGGA GGATGCTGCC ATCCCTACCC TGACTTTGCA TGATGGTCGT AGGGGGGGAT
 GGGTAGTGGG GGTATCAGAC GTCTTCCAGT CCTGGGGAGG GAGTTGAGGC TGTTACCTGA
 AGACCTAGGT AGCTTAGCCT CAGCGGTTGA GGAACTTTGA GAACCCTGGG TCTCTCACCC
 AGCAACCCGT CTCAGACCCG GCTGGCCTTA GAGGCGCAGG TCAAGTCTGC ACGCGGGCCA
 GGGTTCTGGG CGGAG

  Submitted Frequency for ss48399204 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_HISP-PANEL38TGTGAGTGTG=0.60526299
-=0.39473701
SLC4A2-EGP_HISP-090605EGP_SNPS
EGP_ASIAN-PANEL42TGTGAGTGTG=0.57142901
-=0.42857099
SLC4A2-EGP_ASIAN-090605EGP_SNPS
EGP_YORUB-PANEL22TGTGAGTGTG=0.54545498
-=0.45454499
SLC4A2-EGP_YORUB-090605EGP_SNPS
EGP_CEPH-PANEL44-=0.59090900
TGTGAGTGTG=0.40909100
SLC4A2-EGP_CEPH-090605EGP_SNPS
EGP_AD-PANEL30TGTGAGTGTG=0.73333299
-=0.26666701
SLC4A2-EGP_AD-090605EGP_SNPS


  dbSNP summary of Genotypes for ss48399204 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-PANEL2222TGTGAGTGTG=0.54545456
-=0.45454547TGTGAGTGTG/TGTGAGTGTG=0.36363637
-/TGTGAGTGTG=0.36363637
-/-=0.27272728
Pr(chiSq=0.782,df=1)
=0.403
Genotype
Freq.
EGP_AD-PANEL3030TGTGAGTGTG=0.73333335
-=0.26666668TGTGAGTGTG/TGTGAGTGTG=0.53333336
-/TGTGAGTGTG=0.40000001
-/-=0.06666667
Pr(chiSq=0.008,df=1)
=1.000
Genotype
Freq.
EGP_HISP-PANEL3838TGTGAGTGTG=0.60526317
-=0.39473686TGTGAGTGTG/TGTGAGTGTG=0.42105263
-/TGTGAGTGTG=0.36842105
-/-=0.21052632
Pr(chiSq=0.996,df=1)
=0.343
Genotype
Freq.
EGP_ASIAN-PANEL4242TGTGAGTGTG=0.57142860
-=0.42857143TGTGAGTGTG/TGTGAGTGTG=0.38095239
-/TGTGAGTGTG=0.38095239
-/-=0.23809524
Pr(chiSq=1.037,df=1)
=0.317
Genotype
Freq.
EGP_CEPH-PANEL4444-=0.59090906
TGTGAGTGTG=0.40909091-/-=0.40909091
-/TGTGAGTGTG=0.36363637
TGTGAGTGTG/TGTGAGTGTG=0.22727273
Pr(chiSq=1.352,df=1)
=0.251
Genotype
Freq.

  Submitted individual genotype for ss48399204 back to top
There is no individual genotype data for ss48399204.

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