Submitted SNP(ss) Details: ss48399205

Submitted SNP(ss) Details: ss48399205

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-004646
RefSNP(rs#)	rs35446771
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/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: 11
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 CCTGGGCAGC CTTGGGTGCT CCGGCCAAGG GTCCTCGCCA ACCAGGGGTG TGAGCGTGTG
 TGAGTGTGGA GACTGGGAGG ATGCTGCCAT CCCTACCCTG ACTTTGCATG ATGGTCGTAG
 GGGGGGATGG GTAGTGGGGG TATCAGACGT CTTCCAGTCC TGGGGAGGGA GTTGAGGCTG
 TTACCTGAAG ACCTAGGTAG CTTAGCCTCA GCGGTTGAGG AACTTTGAGA ACCCTGGGTC
 TCTCACCCAG CAACC
 Y
 GTCTCAGACC CGGCTGGCCT TAGAGGCGCA GGTCAAGTCT GCACGCGGGC CAGGGTTCTG
 GGCGGAGCTC GCCTGCCACG ACTGGCCACG CCCCCTGCCC ACGTGCCACC CAGGCCCGCC
 CCTCCCTGCC CCCACGTGGC CACCGCTCCA CATGGCCCCC TTTGGATTTT CCTAAGGAGT
 CTTAATGATT AACCCCGTGC CACAATCAGC TCCGCTATTG GTCACACTGG CCCAGAGGGG
 CACGTGACTG GGAAG

Submitted Frequency for ss48399205

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_CEPH-PANEL	40	C=1.00000000	T=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_ASIAN-PANEL	44	C=1.00000000	T=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS
EGP_YORUB-PANEL	24	C=1.00000000	T=0.00000000	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_AD-PANEL	24	C=0.95833302	T=0.04166700	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_HISP-PANEL	44	C=1.00000000	T=0.00000000	SLC4A2-EGP_HISP-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399205

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
HapMap-YRI	226	226	C=0.98672569	T=0.01327434	C/C=0.97345132 C/T=0.02654867	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.
EGP_AD-PANEL	24	24	C=0.95833331	T=0.04166667	C/C=0.91666669 C/T=0.08333334	Pr(chiSq=0.002,df=1) =1.000	Genotype Freq.
HAPMAP-ASW	98	98	C=0.98979592	T=0.01020408	C/C=0.97959185 C/T=0.02040816	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HAPMAP-LWK	180	180	C=0.99444443	T=0.00555556	C/C=0.98888886 C/T=0.01111111	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HAPMAP-MKK	286	286	C=0.99300700	T=0.00699301	C/C=0.98601401 C/T=0.01398601	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399205

There is no individual genotype data for ss48399205.

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