Submitted SNP(ss) Details: ss48399199

Submitted SNP(ss) Details: ss48399199

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-003248
RefSNP(rs#)	rs34026616
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: 16
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 CTCCCCACAC CCTTCCCAGA CTGGGTGCAC TCACGCTCAC CCACACCACC CGCCCTGGCT
 GAAGGCCTGC TGAGGGGGAG GGGAAGAGCG TGGTTAGCCA AGTTGGAGTG CTTGCCAAGA
 ATGTGTTGCC AGGCTCCCCA TCCTGGGTGA CCCCCCCAGA CCTATATTGT TTGACGCTAC
 ACTGACTTGT CTTACTCCTA AGTCAGGCAC CCCCAGTCCC CAGCAACACA CTGGGAGCAT
 GGGTTGTTGG GTACC
 R
 TCACTTTTTG CCAGTCTTGG GTGCCCCCTG TGCTGACCCG CTAGGAATGC GCCCCCTATT
 TGCAGGGATT GGGCTCCCTC CTGCAGCTCC TTCTCTGCCC CCACCACACA GTGTCCTCCC
 CAGACTCCCT ACAGTCACAG TCAGGAGGGT GGCAGCACTG CCACTCAGAT TTTCCTGGCT
 CCAGGCTCTA GAGGGGCGGG ATCCAGACTG CCCCTCAGAG GCAGAACCTC AAGGTTGCGG
 TGCCCACCCC CTCCC

Submitted Frequency for ss48399199

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_AD-PANEL	26	G=1.00000000	A=0.00000000	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_YORUB-PANEL	24	G=1.00000000	A=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_HISP-PANEL	42	G=1.00000000	A=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_CEPH-PANEL	44	G=1.00000000	A=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	48	G=0.83333302	A=0.16666700	SLC4A2-EGP_ASIAN-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399199

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
HapMap-HCB - EAST ASIA	86	86	G=0.83720928	A=0.16279070	G/G=0.72093022 A/G=0.23255815 A/A=0.04651163	Pr(chiSq=0.927,df=1) =0.343	Genotype Freq.
HapMap-JPT	170	170	G=0.75882351	A=0.24117647	G/G=0.60000002 A/G=0.31764707 A/A=0.08235294	Pr(chiSq=1.485,df=1) =0.251	Genotype Freq.
HapMap-YRI	226	226	G=0.99115044	A=0.00884956	G/G=0.98230088 A/G=0.01769911	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
EGP_ASIAN-PANEL	48	48	G=0.83333331	A=0.16666667	G/G=0.66666669 A/G=0.33333334	Pr(chiSq=0.293,df=1) =0.655	Genotype Freq.
HAPMAP-ASW	98	98	G=0.98979592	A=0.01020408	G/G=0.97959185 A/G=0.02040816	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HAPMAP-CHB	82	82	G=0.81707317	A=0.18292683	G/G=0.70731705 A/G=0.21951219 A/A=0.07317073	Pr(chiSq=2.894,df=1) =0.100	Genotype Freq.
HAPMAP-CHD	170	170	G=0.82352942	A=0.17647059	G/G=0.69411767 A/G=0.25882354 A/A=0.04705882	Pr(chiSq=1.020,df=1) =0.317	Genotype Freq.
HAPMAP-LWK	180	180	G=0.98888886	A=0.01111111	G/G=0.97777778 A/G=0.02222222	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HAPMAP-MEX	100	100	G=0.99000001	A=0.01000000	G/G=0.98000002 A/G=0.02000000	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HAPMAP-MKK	286	286	G=0.99300700	A=0.00699301	G/G=0.98601401 A/G=0.01398601	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399199

There is no individual genotype data for ss48399199.

Disclaimer Privacy statement