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Submitted SNP(ss) Details: ss48399187           
Submitter
HandleEGP_SNPS
Submitter SNP IDSLC4A2-000418
RefSNP(rs#)rs2069442
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 Samplesize24
PopulationEGP_YORUB-PANEL
Allele
Observed AlleleC/G
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|ss48399187|allelePos=256|len=511|taxid=9606|alleles='C/G'|mol=Genomic
 GGACCCCTGC GGGCCCTCGG TTTTAAGACT CTGGCCCCGG CGTTGCAGAG GAGGCGGCAC
 CTGAGCCTCC AGCCCCGCCC CGTCTGCCCG CGCAGGGCCT TCTGGGGCTT GTAGTCCTAA
 AACGACTAGG TCTCCCCGCA ATGCCCGAGA CCGAGGACAA GAAGACTACA ACCCCCAGCC
 GTCTGCGCTC ACGCTCTCTG CAGCACTCGA CTCCAGGGCT CCGTTTCTAC CGCGGAGGCA
 AACCTTGGAC TTCAA
 S
 TCCCAGGAAG CAACGCGTGT CCGTTTTCCG GGCGCCCCGC CGCGGCGCCG TGGTTCCCAG
 TGTGCCCCGC TGTTGTTATT CCTTTTATGT GCTCCCAGCC CTCTTGAAAA GGGCCGCTCC
 GGGACTACGC GTTCCAGAAT GCAGCGGAAA TGGGGGCGGA GCGCTCTCGG TTAGGGGTTT
 GGGGTTTGGC GGCCTAGATC CCGGGCACTG GCGGCCCAGC GCTGACCTGG TTGGTGGCAT
 TGTGTTCCCA ACGGC

  Submitted Frequency for ss48399187 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-PANEL42C=0.52381003
G=0.47619000
SLC4A2-EGP_HISP-090605EGP_SNPS
EGP_ASIAN-PANEL46G=0.67391300
C=0.32608700
SLC4A2-EGP_ASIAN-090605EGP_SNPS
EGP_YORUB-PANEL24G=0.62500000
C=0.37500000
SLC4A2-EGP_YORUB-090605EGP_SNPS
EGP_AD-PANEL28G=0.60714298
C=0.39285699
SLC4A2-EGP_AD-090605EGP_SNPS
EGP_CEPH-PANEL42G=0.80952400
C=0.19047600
SLC4A2-EGP_CEPH-090605EGP_SNPS


  dbSNP summary of Genotypes for ss48399187 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-PANEL2424G=0.62500000
C=0.37500000G/G=0.50000000
C/C=0.25000000
C/G=0.25000000
Pr(chiSq=2.613,df=1)
=0.150
Genotype
Freq.
EGP_HISP-PANEL4242C=0.52380955
G=0.47619048C/G=0.38095239
C/C=0.33333334
G/G=0.28571430
Pr(chiSq=1.173,df=1)
=0.294
Genotype
Freq.
EGP_CEPH-PANEL4242G=0.80952382
C=0.19047619G/G=0.66666669
C/G=0.28571430
C/C=0.04761905
Pr(chiSq=0.114,df=1)
=0.752
Genotype
Freq.
EGP_AD-PANEL2828G=0.60714287
C=0.39285713C/G=0.50000000
G/G=0.35714287
C/C=0.14285715
Pr(chiSq=0.032,df=1)
=1.000
Genotype
Freq.
EGP_ASIAN-PANEL4646G=0.67391306
C=0.32608697G/G=0.47826087
C/G=0.39130434
C/C=0.13043478
Pr(chiSq=0.277,df=1)
=0.655
Genotype
Freq.

  Submitted individual genotype for ss48399187 back to top
There is no individual genotype data for ss48399187.

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