Submitted SNP(ss) Details: ss48399208

Submitted SNP(ss) Details: ss48399208

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-005204
RefSNP(rs#)	rs33966546
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/T
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: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 GGCCATGGAC TTCCTCCTGC GGCCTCAGGT GCGAGGGGTC TGCGACCCTC TCTCCCCATG
 GCGGCAAGCT CCCTGCGCCT CTCCCCGTCC CCTCGTCCCA CGGGGCTGCT TCTGGTGGGA
 GTGGGGCTGG GCGCTTAGGG GAGCCAGGAG ATGGACAGGA GCCTTCCTCA CAGAGGGGAG
 AAGCCAGCCC CCTGGCCCGC TCACCTTCTC TTATCCGGTG TTCTGCCAGT CCCAGCTGCT
 CCAGTCCCCA CCTCG
 Y
 CCCTAAGACC CGCCCTTCAC CCCAGCCCTC CCCGCGCTCT TCCTTGTTCT GGCTGCTGGC
 ACCGCTATGG AGGGGGCTGC ATACCCCCGC CCTTGGAGAT CCCGATGCCC TTCAGGTCCA
 GAAGCTCTTG AGCAAATATT TGGCGGCGCC TGGAGCTGAG ACCGTGGGTG GGTGGGGGGC
 TGGACCAAGG CTGCCTGGCC AGGCGGCTGC CGCTTAGCTG GGCTGAGCTC TTACAAGCGC
 CGCATTCCCT GCCGG

Submitted Frequency for ss48399208

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_CEPH-PANEL	42	C=0.80952400	T=0.19047600	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	46	C=0.76086998	T=0.23913001	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_AD-PANEL	28	C=0.67857099	T=0.32142901	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_HISP-PANEL	42		C=0.50000000 T=0.50000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_YORUB-PANEL	24	C=0.83333302	T=0.16666700	SLC4A2-EGP_YORUB-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399208

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	C=0.83333331	T=0.16666667	C/C=0.75000000 C/T=0.16666667 T/T=0.08333334	Pr(chiSq=1.920,df=1) =0.200	Genotype Freq.
EGP_AD-PANEL	28	28	C=0.67857140	T=0.32142857	C/C=0.50000000 C/T=0.35714287 T/T=0.14285715	Pr(chiSq=0.460,df=1) =0.527	Genotype Freq.
EGP_HISP-PANEL	42	42		C=0.50000000	C/C=0.38095239 T/T=0.38095239 C/T=0.23809524	Pr(chiSq=5.762,df=1) =0.020	Genotype Freq.
EGP_CEPH-PANEL	42	42	C=0.80952382	T=0.19047619	C/C=0.66666669 C/T=0.28571430 T/T=0.04761905	Pr(chiSq=0.114,df=1) =0.752	Genotype Freq.
EGP_ASIAN-PANEL	46	46	C=0.76086956	T=0.23913044	C/C=0.60869563 C/T=0.30434781 T/T=0.08695652	Pr(chiSq=0.616,df=1) =0.439	Genotype Freq.

Submitted individual genotype for ss48399208

There is no individual genotype data for ss48399208.

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