Submitted SNP(ss) Details: ss48399206

Submitted SNP(ss) Details: ss48399206

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-004790
RefSNP(rs#)	rs397897171
Submitted Batch ID	SLC4A2-EGP_YORUB-090605
Submitted Date	Sep 07, 2005
Publication Cited	[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNP	Sep 7 2005 12:00:00:000AM

Resource Links
GenBank Accession	DQ149844
Submitted Gene Name	SLC4A2
Submitted Gene ID	6522
Submitted SNP Synonyms	N.D
Submitted linkout	N.D

Assay
Species	Homo sapiens
Molecular Type	GENOMIC
Method	METHOD-E
Ascertainment Samplesize	22
Population	EGP_YORUB-PANEL

Allele
Observed Allele	-/C
Ancestral Allele	N.D.
Allele Origin	N/A
SNP Class	DIV
CpG Code	N.D.

Validation
Validation Status
HWE Goodness of Fit	not applicable
Homozygote Detected	Y

Variation
Frequency Submission	population count: 5
Genotype Summary	population count: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 AGACGTCTTC CAGTCCTGGG GAGGGAGTTG AGGCTGTTAC CTGAAGACCT AGGTAGCTTA
 GCCTCAGCGG TTGAGGAACT TTGAGAACCC TGGGTCTCTC ACCCAGCAAC CCGTCTCAGA
 CCCGGCTGGC CTTAGAGGCG CAGGTCAAGT CTGCACGCGG GCCAGGGTTC TGGGCGGAGC
 TCGCCTGCCA CGACTGGCCA CGCCCCCTGC CCACGTGCCA CCCAGGCCCG CCCCTCCCTG
 CCCCCACGTG GCCAC
 N
 GCTCCACATG GCCCCCTTTG GATTTTCCTA AGGAGTCTTA ATGATTAACC CCGTGCCACA
 ATCAGCTCCG CTATTGGTCA CACTGGCCCA GAGGGGCACG TGACTGGGAA GGGGCACAGG
 CTGGTCCCCT CCCCCTCCTT CTCAGGTTCA CCCCTGCCGG CCATGGACTT CCTCCTGCGG
 CCTCAGGTGC GAGGGGTCTG CGACCCTCTC TCCCCATGGC GGCAAGCTCC CTGCGCCTCT
 CCCCGTCCCC TCGTC

Submitted Frequency for ss48399206

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	44	C=0.95454502	-=0.04545500	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_AD-PANEL	26	C=0.88461500	-=0.11538500	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_YORUB-PANEL	22	C=0.81818199	-=0.18181799	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_ASIAN-PANEL	44	C=1.00000000	-=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_CEPH-PANEL	44	C=0.97727299	-=0.02272700	SLC4A2-EGP_CEPH-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399206

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
EGP_YORUB-PANEL	22	22	C=0.81818181	-=0.18181819	C/C=0.72727275 -/C=0.18181819 -/-=0.09090909	Pr(chiSq=1.664,df=1) =0.200	Genotype Freq.
EGP_AD-PANEL	26	26	C=0.88461536	-=0.11538462	C/C=0.76923078 -/C=0.23076923	Pr(chiSq=0.048,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	44	44	C=0.95454544	-=0.04545455	C/C=0.90909094 -/C=0.09090909	Pr(chiSq=0.004,df=1) =1.000	Genotype Freq.
EGP_CEPH-PANEL	44	44	C=0.97727275	-=0.02272727	C/C=0.95454544 -/C=0.04545455	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399206

There is no individual genotype data for ss48399206.

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