Submitted SNP(ss) Details: ss48399212

Submitted SNP(ss) Details: ss48399212

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-005925
RefSNP(rs#)	rs35864642
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	22
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)

 GGGCGCCGCC AGAAGTTACT TTTTGGGCTC AGCAGTTGTC CTCAGGCCAA CTGGAGTTTC
 TTCACTATCT GTCATGTGAA CTTCCCGGTT CACACGCCCT CCCTCCAGGC TGCAGATGGG
 CTGGACACAC GGGATTTCTT CCACCTGCCC TGAACTGACT ACACAGCCAA GGGGGCTGGG
 CTGGGATGAG GGTAGCTCAG AACCCAGGGG ACAGCTGCTG GGGGGACTGG GTCTCTGCAT
 CTGAGGGGGC AGACT
 R
 CTGGGGGGAC ACTGGGTCAC TGTGTTTGAA GGGATGTCTA CTGGTAGGGT GACTGGCTTC
 CTGCATTTGA GGGGGCAGAC TGCTTGGGAG GACTGGGTCC CTATATTTGT TTCCTTTTTT
 TTTGTTTTTG TTTTGAGACG GAGTCTCACT CTGTCACCCA GGCTGGAGTG CAGTGGCACG
 ATCTTGGCTC ACTGCAACCT CCGCCTCCCA GGTTCAAGTA ATTCTCCTGC CTCAGCCTCC
 TGAGTAGCTG GGATT

Submitted Frequency for ss48399212

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_AD-PANEL	18	G=1.00000000	A=0.00000000	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_ASIAN-PANEL	32	G=1.00000000	A=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_CEPH-PANEL	30	G=1.00000000	A=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_HISP-PANEL	30	G=0.96666700	A=0.03333300	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_YORUB-PANEL	22	G=1.00000000	A=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399212

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
EGP_HISP-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 ss48399212

There is no individual genotype data for ss48399212.

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