Submitted SNP(ss) Details: ss48399209

Submitted SNP(ss) Details: ss48399209

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-005302
RefSNP(rs#)	rs34403003
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	24
Population	EGP_YORUB-PANEL

Allele
Observed Allele	C/G
Ancestral Allele	N.D.
Allele Origin	N/A
SNP Class	SNV
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: 6
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 CACGGGGCTG CTTCTGGTGG GAGTGGGGCT GGGCGCTTAG GGGAGCCAGG AGATGGACAG
 GAGCCTTCCT CACAGAGGGG AGAAGCCAGC CCCCTGGCCC GCTCACCTTC TCTTATCCGG
 TGTTCTGCCA GTCCCAGCTG CTCCAGTCCC CACCTCGCCC CTAAGACCCG CCCTTCACCC
 CAGCCCTCCC CGCGCTCTTC CTTGTTCTGG CTGCTGGCAC CGCTATGGAG GGGGCTGCAT
 ACCCCCGCCC TTGGA
 S
 ATCCCGATGC CCTTCAGGTC CAGAAGCTCT TGAGCAAATA TTTGGCGGCG CCTGGAGCTG
 AGACCGTGGG TGGGTGGGGG GCTGGACCAA GGCTGCCTGG CCAGGCGGCT GCCGCTTAGC
 TGGGCTGAGC TCTTACAAGC GCCGCATTCC CTGCCGGCTG TGCCGGCCGG CCGCTGCTCC
 GCGCCCGCAG GATGACTCAG GTGGGGGCTG TGGGGGTGGG GTGAGGGGTG GGGCTAGGGA
 CCTGGCCCAG GGCTC

Submitted Frequency for ss48399209

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	42	C=0.52381003	G=0.47619000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_YORUB-PANEL	24	G=0.66666698	C=0.33333299	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_AD-PANEL	28	G=0.64285702	C=0.35714301	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_ASIAN-PANEL	48	G=0.66666698	C=0.33333299	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_CEPH-PANEL	42	G=0.80952400	C=0.19047600	SLC4A2-EGP_CEPH-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399209

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	24	24	G=0.66666669	C=0.33333334	C/G=0.50000000 G/G=0.41666666 C/C=0.08333334	Pr(chiSq=0.187,df=1) =0.752	Genotype Freq.
EGP_HISP-PANEL	42	42	C=0.52380955	G=0.47619048	C/C=0.38095239 G/G=0.33333334 C/G=0.28571430	Pr(chiSq=3.834,df=1) =0.100	Genotype Freq.
EGP_CEPH-PANEL	42	42	G=0.80952382	C=0.19047619	G/G=0.66666669 C/G=0.28571430 C/C=0.04761905	Pr(chiSq=0.114,df=1) =0.752	Genotype Freq.
EGP_AD-PANEL	28	28	G=0.64285713	C=0.35714287	C/G=0.42857143 G/G=0.42857143 C/C=0.14285715	Pr(chiSq=0.062,df=1) =1.000	Genotype Freq.
EGP_ASIAN-PANEL	48	48	G=0.66666669	C=0.33333334	G/G=0.45833334 C/G=0.41666666 C/C=0.12500000	Pr(chiSq=0.094,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399209

There is no individual genotype data for ss48399209.

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