Submitted SNP(ss) Details: ss48399188

Submitted SNP(ss) Details: ss48399188

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-000587
RefSNP(rs#)	rs34359213
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	Not Validated
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)

 AACCCCCAGC CGTCTGCGCT CACGCTCTCT GCAGCACTCG ACTCCAGGGC TCCGTTTCTA
 CCGCGGAGGC AAACCTTGGA CTTCAAGTCC CAGGAAGCAA CGCGTGTCCG TTTTCCGGGC
 GCCCCGCCGC GGCGCCGTGG TTCCCAGTGT GCCCCGCTGT TGTTATTCCT TTTATGTGCT
 CCCAGCCCTC TTGAAAAGGG CCGCTCCGGG ACTACGCGTT CCAGAATGCA GCGGAAATGG
 GGGCGGAGCG CTCTC
 R
 GTTAGGGGTT TGGGGTTTGG CGGCCTAGAT CCCGGGCACT GGCGGCCCAG CGCTGACCTG
 GTTGGTGGCA TTGTGTTCCC AACGGCCTCT TGACGACCTC AGCACGGGTT TCCACCTCTC
 CCCAAGCCAC CTAGTGACCC CAGAATTGAC TGGGGAATGC CTGTGAGCGA TGATGACCTC
 ACAGGGAACA GCTGACCGCA GGGCTGGGAG AACAGCTGTG CCCCTTCGAG GCTGGATTTT
 AGTGGAGGGA CACAC

Submitted Frequency for ss48399188

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	44	G=1.00000000	A=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_ASIAN-PANEL	48	G=1.00000000	A=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_YORUB-PANEL	24	G=1.00000000	A=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_CEPH-PANEL	38	G=1.00000000	A=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_AD-PANEL	30	G=0.96666700	A=0.03333300	SLC4A2-EGP_AD-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399188

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	30	30	G=0.96666664	A=0.03333334	G/G=0.93333334 A/G=0.06666667	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399188

There is no individual genotype data for ss48399188.

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