Submitted SNP(ss) Details: ss48399192

Submitted SNP(ss) Details: ss48399192

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-001868
RefSNP(rs#)	rs36044124
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	20
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)

 TTATGTTTCG ACTTCCCCGA ATTTCCTTGT GCCTGCGTTT TGCTGCCTGG GATCCCTAGC
 GTGAGAAGGG CTCCTTTACA CTCAGAGGTG CCGTAATGGA GCCAAGGGAC GGCATCCTCG
 GGGCTCCCGA GCCCCGAGTG GAGAAGCTTG GGGCAGAGGG ACGGCGGGGG CGGCCCCTGG
 TGCCGGGCTG TGCCTGGAAG CGCGCCCCCG CCCCGGCCCC CGCTCCCGCC TCCGCTCCCG
 CCTCCCCACC CGCGA
 R
 GGCGGGACCG CGCACGGTGC GCCGGGGGGC GCGCACGCAG GGGGCTGGCC TGCCCGCGGC
 GCGGGGGAAA GTTGAGTTGG GAGAAGTTGG GAGCGGCGGG GGCGCGCCCC GGGGTGGGCA
 CGGGGCAGTC GTCGGGAGCG CGCGAGTGCG CCGGAGGACG GGGAGAGACC CCGAGACCCC
 CGGGGCACGA AGTCCAGAGC GAGCGGGTAG GCGGAGAGGT GGTGGCGGGG GACGGCCAGG
 GCCGCAGAGG GAGGA

Submitted Frequency for ss48399192

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	40	A=1.00000000	G=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_ASIAN-PANEL	20	A=0.94999999	G=0.05000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_YORUB-PANEL	20	A=1.00000000	G=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_CEPH-PANEL	36	A=1.00000000	G=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_AD-PANEL	20	A=1.00000000	G=0.00000000	SLC4A2-EGP_AD-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399192

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
EGP_ASIAN-PANEL	20	20	A=0.94999999	G=0.05000000	A/A=0.89999998 A/G=0.10000000	Pr(chiSq=0.003,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399192

There is no individual genotype data for ss48399192.

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