Submitted SNP(ss) Details: ss48399210

Submitted SNP(ss) Details: ss48399210

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-005474
RefSNP(rs#)	rs34812156
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/C
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)

 CTTCACCCCA GCCCTCCCCG CGCTCTTCCT TGTTCTGGCT GCTGGCACCG CTATGGAGGG
 GGCTGCATAC CCCCGCCCTT GGAGATCCCG ATGCCCTTCA GGTCCAGAAG CTCTTGAGCA
 AATATTTGGC GGCGCCTGGA GCTGAGACCG TGGGTGGGTG GGGGGCTGGA CCAAGGCTGC
 CTGGCCAGGC GGCTGCCGCT TAGCTGGGCT GAGCTCTTAC AAGCGCCGCA TTCCCTGCCG
 GCTGTGCCGG CCGGC
 M
 GCTGCTCCGC GCCCGCAGGA TGACTCAGGT GGGGGCTGTG GGGGTGGGGT GAGGGGTGGG
 GCTAGGGACC TGGCCCAGGG CTCGGGCCGG GGGCCTGGGG GCTGGGGGAG CTCTCCTGGG
 GGCTGAAGGG CATCCATTCC GGTCCCTGCG GGGCTGGGTT TGTTTGACTC GGACAGGCTC
 TGGGTCGGTT AGCTTGGGCG CCGCCAGAAG TTACTTTTTG GGCTCAGCAG TTGTCCTCAG
 GCCAACTGGA GTTTC

Submitted Frequency for ss48399210

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	42	C=0.97618997	A=0.02381000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_YORUB-PANEL	24	C=1.00000000	A=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_ASIAN-PANEL	48	C=1.00000000	A=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_CEPH-PANEL	44	C=1.00000000	A=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_AD-PANEL	28	C=1.00000000	A=0.00000000	SLC4A2-EGP_AD-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399210

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	42	42	C=0.97619045	A=0.02380952	C/C=0.95238096 A/C=0.04761905	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399210

There is no individual genotype data for ss48399210.

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