Submitted SNP(ss) Details: ss48399213

Submitted SNP(ss) Details: ss48399213

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-006376
RefSNP(rs#)	rs6464122
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
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)

 AACCTCCGCC TCCCAGGTTC AAGTAATTCT CCTGCCTCAG CCTCCTGAGT AGCTGGGATT
 ACTGGTGTCC GCCACCACGC CTGGCTAATT TTTGTGTTTT TAGTAGAGAT GGGGTTTCAC
 CATGTTGGTC AGGCTGGTCT TGAACTCCTG ACCTCCAGCA ATCCACCCAC CTCAGCCTCC
 CAAAGTGCTG GGATTACAGG TGTGAGCCAC TGTGCCTGGC CTGGGTCCCT ATATTTAAGG
 GACAGCTGCT GGGGG
 S
 ATATAGAGCC ACCAGCATTA GAGGAGATAG CTGCTGGCGG GGGAGGGTTC CTGGGTCTCT
 GGCACTGGGA AGGGTGAGGT TTCGGGGTAC AATTCCCAGT GAGCCCTGTG TGTTTTCTCT
 CTGCCTTCTT CCTCACAGCC AGAGCCAGAG AGCTTGGGCC CTGGGACGCC TGGGTTCCCC
 GAGCAGGAGG AAGACGAACT TCACCGCACC CTGGGCGTGG AGCGGTTTGA GGAGATCCTA
 CAGGAGGCCG GGTCT

Submitted Frequency for ss48399213

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_CEPH-PANEL	36	G=0.88888901	C=0.11111100	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_YORUB-PANEL	24	G=1.00000000	C=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_ASIAN-PANEL	40	G=0.97500002	C=0.02500000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_AD-PANEL	30	G=0.89999998	C=0.10000000	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_HISP-PANEL	42	G=0.88095200	C=0.11904800	SLC4A2-EGP_HISP-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399213

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	G=0.88095236	C=0.11904762	G/G=0.76190478 C/G=0.23809524	Pr(chiSq=0.086,df=1) =1.000	Genotype Freq.
EGP_CEPH-PANEL	36	36	G=0.88888890	C=0.11111111	G/G=0.83333331 C/G=0.11111111 C/C=0.05555556	Pr(chiSq=3.445,df=1) =0.100	Genotype Freq.
EGP_AD-PANEL	30	30	G=0.89999998	C=0.10000000	G/G=0.80000001 C/G=0.20000000	Pr(chiSq=0.035,df=1) =1.000	Genotype Freq.
EGP_ASIAN-PANEL	40	40	G=0.97500002	C=0.02500000	G/G=0.94999999 C/G=0.05000000	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399213

There is no individual genotype data for ss48399213.

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