Submitted SNP(ss) Details: ss48399198

Submitted SNP(ss) Details: ss48399198

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SLC4A2-003043
RefSNP(rs#)	rs34411853
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)

 CAAGGGGAGA GATACTAATC CTCTGGGCCG GTCGGGGCTG GTCCCGGGAA TGTGCCCCTA
 CCCGGATTAT CGGCACCGAT GCTCTGGACA GAAGCTGCTT TGTGTTCTGG GACAGCAGGG
 GAGGGGGTGC AGAGGAGTGT GGAGGAGCGC GACGAGGGCA CAGCCTGAGG TGGGAGTGGG
 CGCCTGCAGG TGCTCTGGGC GGACTCTCCC CACACCCTTC CCAGACTGGG TGCACTCACG
 CTCACCCACA CCACC
 S
 GCCCTGGCTG AAGGCCTGCT GAGGGGGAGG GGAAGAGCGT GGTTAGCCAA GTTGGAGTGC
 TTGCCAAGAA TGTGTTGCCA GGCTCCCCAT CCTGGGTGAC CCCCCCAGAC CTATATTGTT
 TGACGCTACA CTGACTTGTC TTACTCCTAA GTCAGGCACC CCCAGTCCCC AGCAACACAC
 TGGGAGCATG GGTTGTTGGG TACCGTCACT TTTTGCCAGT CTTGGGTGCC CCCTGTGCTG
 ACCCGCTAGG AATGC

Submitted Frequency for ss48399198

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_CEPH-PANEL	44	C=1.00000000	G=0.00000000	SLC4A2-EGP_CEPH-090605	EGP_SNPS
EGP_YORUB-PANEL	24	C=0.95833302	G=0.04166700	SLC4A2-EGP_YORUB-090605	EGP_SNPS
EGP_HISP-PANEL	44	C=0.97727299	G=0.02272700	SLC4A2-EGP_HISP-090605	EGP_SNPS
EGP_AD-PANEL	30	C=1.00000000	G=0.00000000	SLC4A2-EGP_AD-090605	EGP_SNPS
EGP_ASIAN-PANEL	44	C=1.00000000	G=0.00000000	SLC4A2-EGP_ASIAN-090605	EGP_SNPS

dbSNP summary of Genotypes for ss48399198

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	C=0.95833331	G=0.04166667	C/C=0.91666669 C/G=0.08333334	Pr(chiSq=0.002,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	44	44	C=0.97727275	G=0.02272727	C/C=0.95454544 C/G=0.04545455	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss48399198

There is no individual genotype data for ss48399198.

Disclaimer Privacy statement