Submitted SNP(ss) Details: ss48399211

Submitted SNP(ss) Details: ss48399211

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-005709
RefSNP(rs#)	rs34299066
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	C/T
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: 8
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 TGCCGGCTGT GCCGGCCGGC CGCTGCTCCG CGCCCGCAGG ATGACTCAGG TGGGGGCTGT
 GGGGGTGGGG TGAGGGGTGG GGCTAGGGAC CTGGCCCAGG GCTCGGGCCG GGGGCCTGGG
 GGCTGGGGGA GCTCTCCTGG GGGCTGAAGG GCATCCATTC CGGTCCCTGC GGGGCTGGGT
 TTGTTTGACT CGGACAGGCT CTGGGTCGGT TAGCTTGGGC GCCGCCAGAA GTTACTTTTT
 GGGCTCAGCA GTTGT
 Y
 CTCAGGCCAA CTGGAGTTTC TTCACTATCT GTCATGTGAA CTTCCCGGTT CACACGCCCT
 CCCTCCAGGC TGCAGATGGG CTGGACACAC GGGATTTCTT CCACCTGCCC TGAACTGACT
 ACACAGCCAA GGGGGCTGGG CTGGGATGAG GGTAGCTCAG AACCCAGGGG ACAGCTGCTG
 GGGGGACTGG GTCTCTGCAT CTGAGGGGGC AGACTGCTGG GGGGACACTG GGTCACTGTG
 TTTGAAGGGA TGTCT

Submitted Frequency for ss48399211

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	38	C=0.97368401	T=0.02631600	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_YORUB-PANEL	20	C=1.00000000	T=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_CEPH-PANEL	28	C=1.00000000	T=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	36	C=1.00000000	T=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_AD-PANEL	18	C=1.00000000	T=0.00000000	SLC4A2-EGP_AD-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399211

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	38	38	C=0.97368419	T=0.02631579	C/C=0.94736844 C/T=0.05263158	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.
HAPMAP-TSI	176	176	C=0.99431819	T=0.00568182	C/C=0.98863637 C/T=0.01136364	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399211

There is no individual genotype data for ss48399211.

Disclaimer Privacy statement