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Submitted SNP(ss) Details: ss48399186           
Submitter
HandleEGP_SNPS
Submitter SNP IDSLC4A2-000386
RefSNP(rs#)rs2069443
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 AlleleG/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|ss48399186|allelePos=256|len=511|taxid=9606|alleles='G/T'|mol=Genomic
 TTTCTCGTAT TTCTGCATCG CGGCGGCCGC GGGGACCCCT GCGGGCCCTC GGTTTTAAGA
 CTCTGGCCCC GGCGTTGCAG AGGAGGCGGC ACCTGAGCCT CCAGCCCCGC CCCGTCTGCC
 CGCGCAGGGC CTTCTGGGGC TTGTAGTCCT AAAACGACTA GGTCTCCCCG CAATGCCCGA
 GACCGAGGAC AAGAAGACTA CAACCCCCAG CCGTCTGCGC TCACGCTCTC TGCAGCACTC
 GACTCCAGGG CTCCG
 K
 TTCTACCGCG GAGGCAAACC TTGGACTTCA AGTCCCAGGA AGCAACGCGT GTCCGTTTTC
 CGGGCGCCCC GCCGCGGCGC CGTGGTTCCC AGTGTGCCCC GCTGTTGTTA TTCCTTTTAT
 GTGCTCCCAG CCCTCTTGAA AAGGGCCGCT CCGGGACTAC GCGTTCCAGA ATGCAGCGGA
 AATGGGGGCG GAGCGCTCTC GGTTAGGGGT TTGGGGTTTG GCGGCCTAGA TCCCGGGCAC
 TGGCGGCCCA GCGCT

  Submitted Frequency for ss48399186 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_AD-PANEL28T=0.60714298
G=0.39285699
SLC4A2-EGP_AD-090605EGP_SNPS
EGP_YORUB-PANEL24T=0.62500000
G=0.37500000
SLC4A2-EGP_YORUB-090605EGP_SNPS
EGP_CEPH-PANEL42T=0.80952400
G=0.19047600
SLC4A2-EGP_CEPH-090605EGP_SNPS
EGP_HISP-PANEL42G=0.52381003
T=0.47619000
SLC4A2-EGP_HISP-090605EGP_SNPS
EGP_ASIAN-PANEL46T=0.67391300
G=0.32608700
SLC4A2-EGP_ASIAN-090605EGP_SNPS


  dbSNP summary of Genotypes for ss48399186 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-PANEL2424T=0.62500000
G=0.37500000T/T=0.50000000
G/T=0.25000000
G/G=0.25000000
Pr(chiSq=2.613,df=1)
=0.150
Genotype
Freq.
EGP_AD-PANEL2828T=0.60714287
G=0.39285713G/T=0.50000000
T/T=0.35714287
G/G=0.14285715
Pr(chiSq=0.032,df=1)
=1.000
Genotype
Freq.
EGP_HISP-PANEL4242G=0.52380955
T=0.47619048G/T=0.38095239
G/G=0.33333334
T/T=0.28571430
Pr(chiSq=1.173,df=1)
=0.294
Genotype
Freq.
EGP_CEPH-PANEL4242T=0.80952382
G=0.19047619T/T=0.66666669
G/T=0.28571430
G/G=0.04761905
Pr(chiSq=0.114,df=1)
=0.752
Genotype
Freq.
EGP_ASIAN-PANEL4646T=0.67391306
G=0.32608697T/T=0.47826087
G/T=0.39130434
G/G=0.13043478
Pr(chiSq=0.277,df=1)
=0.655
Genotype
Freq.

  Submitted individual genotype for ss48399186 back to top
There is no individual genotype data for ss48399186.

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