Submitted SNP(ss) Details: ss48399191

Submitted SNP(ss) Details: ss48399191

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-001221
RefSNP(rs#)	rs7809946
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: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 TCTCCGGAAC AGGGCCCACT GGAGTCAGCC AGGGTGTGGC AGGCAGGTTG GTTAACCCCC
 TCCACAGACA AGACCACAGA CCGATGCTCA ACTTGCAGCA GCCTCTGCCT CACCCCTTAA
 AGGAGCTGAT TATAGATTCC CTTACGCTGC CTCTCTAATT GTCTCATGAT TGCATTCTTG
 AGGGCTATGG ACCGAGGGAA AAGGATCCCA AACAGCACTC CTCAGCACCG GAACCAGAGT
 TGCTGCTAAA CACGT
 S
 TTAATTAACT CGTTTCTATC TGAATGCTTT TGCATACACA AGGGAAAAGA AGCAAAAAGT
 GTATTCCTTA TCTGGAAGAC TTTGTGATTT CGTTGGGCAA AAAAGAACTA CACACAAAGG
 TCTTGAATGA TAAGTGATGG CTCTGCCTAG GGTTCGGTTC AGTGTGGAGG TTCCATTCAA
 GAGGAAGGAG GCCAGCACAG CGAATCTCTG TCCCTCTCTG GAAGTGGAGA GCCTCTAACA
 AGTTACCCTC TCCCA

Submitted Frequency for ss48399191

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	42	G=1.00000000	C=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_ASIAN-PANEL	42	G=1.00000000	C=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_YORUB-PANEL	24	G=0.91666698	C=0.08333300	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_CEPH-PANEL	32	G=1.00000000	C=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_AD-PANEL	28	G=0.92857099	C=0.07142900	SLC4A2-EGP_AD-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399191

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=0.91666669	C=0.08333334	G/G=0.83333331 C/G=0.16666667	Pr(chiSq=0.016,df=1) =1.000	Genotype Freq.
EGP_AD-PANEL	28	28	G=0.92857140	C=0.07142857	G/G=0.85714287 C/G=0.14285715	Pr(chiSq=0.011,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399191

There is no individual genotype data for ss48399191.

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