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Submitted SNP(ss) Details: ss48399215           
Submitter
HandleEGP_SNPS
Submitter SNP IDSLC4A2-006774
RefSNP(rs#)rs2303930
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 AlleleA/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|ss48399215|allelePos=256|len=511|taxid=9606|alleles='A/G'|mol=Genomic
 AGCCAGAGAG CTTGGGCCCT GGGACGCCTG GGTTCCCCGA GCAGGAGGAA GACGAACTTC
 ACCGCACCCT GGGCGTGGAG CGGTTTGAGG AGATCCTACA GGAGGCCGGG TCTCGTGGAG
 GGGAGGAGCC AGGCCGCAGC TATGGGGAGG AAGACTTTGA GTGTGAGGGG GCAGGCAGGG
 GAGGGGGAGG TGGGGGGATC AGGTTTGACT GTCCAGCAAA GAAGGGACTG GGGTCCTAGT
 GGGAGGAGTG GGGCT
 R
 GGGGGCAGGA TGGCAGGGGA GGGACACTGT GCCTGCCACA GCCAAGTCCC CCTCCTCCCT
 GCAGACCACC GCCAGTCCTC CCACCACATC CATCACCCAC TGTCCACCCA CCTGCCTCCG
 GATGCACGCC GCCGCAAGAC ACCCCAGGGC CCAGGACGGA AGCCTCGAAG GCGCCCGGGA
 GCCTCCCCGA CTGGAGAAAC CCCGACCATT GAGGAGGGGG AGGAAGATGA GGATGAGGCC
 AGCGAGGCTG AGGGG

  Submitted Frequency for ss48399215 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-PANEL44A=0.63636398
G=0.36363599
SLC4A2-EGP_CEPH-090605EGP_SNPS
EGP_ASIAN-PANEL48A=0.72916698
G=0.27083299
SLC4A2-EGP_ASIAN-090605EGP_SNPS
EGP_HISP-PANEL44A=0.68181801
G=0.31818199
SLC4A2-EGP_HISP-090605EGP_SNPS
EGP_AD-PANEL30A=0.83333302
G=0.16666700
SLC4A2-EGP_AD-090605EGP_SNPS
EGP_YORUB-PANEL24A=0.75000000
G=0.25000000
SLC4A2-EGP_YORUB-090605EGP_SNPS


  dbSNP summary of Genotypes for ss48399215 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-PANEL2424A=0.75000000
G=0.25000000A/G=0.50000000
A/A=0.50000000
Pr(chiSq=0.583,df=1)
=0.479
Genotype
Freq.
EGP_HISP-PANEL4444A=0.68181819
G=0.31818181A/A=0.50000000
A/G=0.36363637
G/G=0.13636364
Pr(chiSq=0.577,df=1)
=0.479
Genotype
Freq.
EGP_CEPH-PANEL4444A=0.63636363
G=0.36363637A/A=0.45454547
A/G=0.36363637
G/G=0.18181819
Pr(chiSq=1.010,df=1)
=0.317
Genotype
Freq.
EGP_AD-PANEL3030A=0.83333331
G=0.16666667A/A=0.73333335
A/G=0.20000000
G/G=0.06666667
Pr(chiSq=1.176,df=1)
=0.294
Genotype
Freq.
EGP_ASIAN-PANEL4848A=0.72916669
G=0.27083334A/A=0.54166669
A/G=0.37500000
G/G=0.08333334
Pr(chiSq=0.061,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss48399215 back to top
There is no individual genotype data for ss48399215.

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