Submitted SNP(ss) Details: ss48399207

Submitted SNP(ss) Details: ss48399207

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-004801
RefSNP(rs#)	rs34048959
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	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)

 AGTCCTGGGG AGGGAGTTGA GGCTGTTACC TGAAGACCTA GGTAGCTTAG CCTCAGCGGT
 TGAGGAACTT TGAGAACCCT GGGTCTCTCA CCCAGCAACC CGTCTCAGAC CCGGCTGGCC
 TTAGAGGCGC AGGTCAAGTC TGCACGCGGG CCAGGGTTCT GGGCGGAGCT CGCCTGCCAC
 GACTGGCCAC GCCCCCTGCC CACGTGCCAC CCAGGCCCGC CCCTCCCTGC CCCCACGTGG
 CCACCGCTCC ACATG
 S
 CCCCCTTTGG ATTTTCCTAA GGAGTCTTAA TGATTAACCC CGTGCCACAA TCAGCTCCGC
 TATTGGTCAC ACTGGCCCAG AGGGGCACGT GACTGGGAAG GGGCACAGGC TGGTCCCCTC
 CCCCTCCTTC TCAGGTTCAC CCCTGCCGGC CATGGACTTC CTCCTGCGGC CTCAGGTGCG
 AGGGGTCTGC GACCCTCTCT CCCCATGGCG GCAAGCTCCC TGCGCCTCTC CCCGTCCCCT
 CGTCCCACGG GGCTG

Submitted Frequency for ss48399207

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_YORUB-PANEL	24	G=1.00000000	C=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_HISP-PANEL	44	G=1.00000000	C=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_AD-PANEL	24	G=0.95833302	C=0.04166700	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_CEPH-PANEL	44	G=1.00000000	C=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	46	G=1.00000000	C=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399207

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	24	24	G=0.95833331	C=0.04166667	G/G=0.91666669 C/G=0.08333334	Pr(chiSq=0.002,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399207

There is no individual genotype data for ss48399207.

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