Submitted SNP(ss) Details: ss48399197

Submitted SNP(ss) Details: ss48399197

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-002623
RefSNP(rs#)	rs6464120
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	A/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: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 CCCCGGCTGG CTCCAGACCA CCCCTCCCCT CCGGCCCCCC CGCATAGTCC TTCAGTCCCG
 TCCGGGGCGC CCAGACTGGG GGTTGCCCGG GGCCCCCATC CCCAATCTCC GGGTTGAGAG
 GCGAAGCCAG GAAAGGCGGG TGGCGGGTAA GGTCGGGACA AGGGGTCAGA CAGAAGAGGG
 AGCAGCTGGG TGGGAATGGG AAAGATGAGC CCGGAGAGTT GGACCTGACT CCCGGGGTCG
 GTTTGTCCAG GCGGG
 R
 AGTTCTGTGC TGGGTGTGAG AGGCGGCACT GCCTGAAACC CAGGGTCTAC TTTATCCCCC
 TTCGTTTCCC CCGCCAGCCC CACATGGAAG AGCTGCGGAA TTTACGAGTT CACTTGGGGG
 GTGGTTAATG CCCAAGTGGG GGTCCGAGGT GCTAATCCCT TGGTCAAGGG GAGAGATACT
 AATCCTCTGG GCCGGTCGGG GCTGGTCCCG GGAATGTGCC CCTACCCGGA TTATCGGCAC
 CGATGCTCTG GACAG

Submitted Frequency for ss48399197

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_YORUB-PANEL	24	G=1.00000000	A=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_AD-PANEL	28	G=0.92857099	A=0.07142900	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_CEPH-PANEL	42	G=0.83333302	A=0.16666700	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	48	G=0.95833302	A=0.04166700	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_HISP-PANEL	42	G=0.88095200	A=0.11904800	SLC4A2-EGP_HISP-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399197

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
EGP_AD-PANEL	28	28	G=0.92857140	A=0.07142857	G/G=0.85714287 A/G=0.14285715	Pr(chiSq=0.011,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	42	42	G=0.88095236	A=0.11904762	G/G=0.76190478 A/G=0.23809524	Pr(chiSq=0.086,df=1) =1.000	Genotype Freq.
EGP_CEPH-PANEL	42	42	G=0.83333331	A=0.16666667	G/G=0.76190478 A/G=0.14285715 A/A=0.09523810	Pr(chiSq=4.954,df=1) =0.050	Genotype Freq.
EGP_ASIAN-PANEL	48	48	G=0.95833331	A=0.04166667	G/G=0.91666669 A/G=0.08333334	Pr(chiSq=0.004,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399197

There is no individual genotype data for ss48399197.

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