Submitted SNP(ss) Details: ss48399200

Submitted SNP(ss) Details: ss48399200

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-003708
RefSNP(rs#)	rs10245199
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)

 AGACTGCCCC TCAGAGGCAG AACCTCAAGG TTGCGGTGCC CACCCCCTCC CAGCCCATCA
 CATGCCCCTC CCCCATTATA AAGCTCTGCC CAGCCCATGC CCACCTTCTG TGCCTTCCTC
 TCTCTCAGTG AGTGAGTGGA GTTGAGCTCC TGCCCTCCAC CCAGCCAGCC TGCTTCCCTC
 CTGCCGGTCC CCAAGGACCT GGGGGAGGGA AGCCTCCTGC CGGCCTGTAC TGGGGAGGGG
 GCACCCCCTC CCTGC
 R
 GGGGCATCTT GGGCTCTCTC CAGAGTTCTT CCATTCGTCT GCTTCCTGTC TCGGCAGCCC
 GGCCCCGGCT CCACGGGGTG TCTCACCCTC CCCACCACAC CCTCTCTGGT CTCAGGCCCA
 CCTCTGGTGG GTGCCCTGAC CCTGCGAGGC TCCGTTGTCT GCCTGGGCCT TCACTCCCCT
 CTTTCCCCAG CTCATTATCA CTCCCTCCCT CATCTTTGTT GCTTTCTCTC CGGGCCTGGG
 CCTTGACTCC TTTCT

Submitted Frequency for ss48399200

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_YORUB-PANEL	24	A=0.70833302	G=0.29166701	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_CEPH-PANEL	42	A=0.80952400	G=0.19047600	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_AD-PANEL	30	A=0.63333303	G=0.36666700	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_HISP-PANEL	44	A=0.54545498	G=0.45454499	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_ASIAN-PANEL	46	A=0.69565201	G=0.30434799	SLC4A2-EGP_ASIAN-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399200

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	A=0.70833331	G=0.29166666	A/A=0.58333331 A/G=0.25000000 G/G=0.16666667	Pr(chiSq=1.872,df=1) =0.200	Genotype Freq.
EGP_AD-PANEL	30	30	A=0.63333333	G=0.36666667	A/G=0.46666667 A/A=0.40000001 G/G=0.13333334	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
EGP_CEPH-PANEL	42	42	A=0.80952382	G=0.19047619	A/A=0.66666669 A/G=0.28571430 G/G=0.04761905	Pr(chiSq=0.114,df=1) =0.752	Genotype Freq.
EGP_HISP-PANEL	44	44	A=0.54545456	G=0.45454547	A/A=0.40909091 G/G=0.31818181 A/G=0.27272728	Pr(chiSq=4.455,df=1) =0.050	Genotype Freq.
EGP_ASIAN-PANEL	46	46	A=0.69565219	G=0.30434781	A/A=0.47826087 A/G=0.43478259 G/G=0.08695652	Pr(chiSq=0.017,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399200

There is no individual genotype data for ss48399200.

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