Submitted SNP(ss) Details: ss48399214

Submitted SNP(ss) Details: ss48399214

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-006540
RefSNP(rs#)	rs2303929
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
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)

 ACCCACCTCA GCCTCCCAAA GTGCTGGGAT TACAGGTGTG AGCCACTGTG CCTGGCCTGG
 GTCCCTATAT TTAAGGGACA GCTGCTGGGG GGATATAGAG CCACCAGCAT TAGAGGAGAT
 AGCTGCTGGC GGGGGAGGGT TCCTGGGTCT CTGGCACTGG GAAGGGTGAG GTTTCGGGGT
 ACAATTCCCA GTGAGCCCTG TGTGTTTTCT CTCTGCCTTC TTCCTCACAG CCAGAGCCAG
 AGAGCTTGGG CCCTG
 R
 GACGCCTGGG TTCCCCGAGC AGGAGGAAGA CGAACTTCAC CGCACCCTGG GCGTGGAGCG
 GTTTGAGGAG ATCCTACAGG AGGCCGGGTC TCGTGGAGGG GAGGAGCCAG GCCGCAGCTA
 TGGGGAGGAA GACTTTGAGT GTGAGGGGGC AGGCAGGGGA GGGGGAGGTG GGGGGATCAG
 GTTTGACTGT CCAGCAAAGA AGGGACTGGG GTCCTAGTGG GAGGAGTGGG GCTAGGGGGC
 AGGATGGCAG GGGAG

Submitted Frequency for ss48399214

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_AD-PANEL	30	G=0.89999998	A=0.10000000	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_HISP-PANEL	42	G=0.59523797	A=0.40476200	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_CEPH-PANEL	44	G=0.81818199	A=0.18181799	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	48	G=0.64583302	A=0.35416701	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_YORUB-PANEL	24	G=0.91666698	A=0.08333300	SLC4A2-EGP_YORUB-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399214

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
EGP_YORUB-PANEL	24	24	G=0.91666669	A=0.08333334	G/G=0.83333331 A/G=0.16666667	Pr(chiSq=0.016,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	42	42	G=0.59523809	A=0.40476191	G/G=0.42857143 A/G=0.33333334 A/A=0.23809524	Pr(chiSq=1.995,df=1) =0.200	Genotype Freq.
EGP_CEPH-PANEL	44	44	G=0.81818181	A=0.18181819	G/G=0.63636363 A/G=0.36363637	Pr(chiSq=0.359,df=1) =0.584	Genotype Freq.
EGP_AD-PANEL	30	30	G=0.89999998	A=0.10000000	G/G=0.80000001 A/G=0.20000000	Pr(chiSq=0.035,df=1) =1.000	Genotype Freq.
EGP_ASIAN-PANEL	48	48	G=0.64583331	A=0.35416666	G/G=0.45833334 A/G=0.37500000 A/A=0.16666667	Pr(chiSq=0.780,df=1) =0.403	Genotype Freq.

Submitted individual genotype for ss48399214

There is no individual genotype data for ss48399214.

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