Submitted SNP(ss) Details: ss38349670

Submitted SNP(ss) Details: ss38349670

Submitter
Handle	EGP_SNPS
Submitter SNP ID	PTEN-002452
RefSNP(rs#)	rs12573787
Submitted Batch ID	PTEN-EGP_YORUB-060105
Submitted Date	Jul 07, 2005
Publication Cited	[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNP	Jul 7 2005 12:00:00:000AM

Resource Links
GenBank Accession	DQ073384
Submitted Gene Name	PTEN
Submitted Gene ID	5728
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	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: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 AGATGAGAGA CGGCGGCGGC CGCGGCCCGG AGCCCCTCTC AGCGCCTGTG AGCAGCCGCG
 GGGGCAGCGC CCTCGGGGAG CCGGCCGGCC TGCGGCGGCG GCAGCGGCGG CGTTTCTCGC
 CTCCTCTTCG TCTTTTCTAA CCGTGCAGCC TCTTCCTCGG CTTCTCCTGA AAGGGAAGGT
 GGAAGCCGTG GGCTCGGGCG GGAGCCGGCT GAGGCGCGGC GGCGGCGGCG GCGGCACCTC
 CCGCTCCTGG AGCGG
 R
 GGGGAGAAGC GGCGGCGGCG GCGGCCGCGG CGGCTGCAGC TCCAGGGAGG GGGTCTGAGT
 CGCCTGTCAC CATTTCCAGG GCTGGGAACG CCGGAGAGTT GGTCTCTCCC CTTCTACTGC
 CTCCAACACG GCGGCGGCGG CGGCGGCACA TCCAGGGACC CGGGCCGGTT TTAAACCTCC
 CGTCCGCCGC CGCCGCACCC CCCGTGGCCC GGGCTCCGGA GGCCGCCGGC GGAGGCAGCC
 GTTCGGAGGA TTATT

Submitted Frequency for ss38349670

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_YORUB-PANEL	20	G=0.94999999	A=0.05000000	PTEN-EGP_YORUB-060105	EGP_SNPS
EGP_AD-PANEL	30	G=1.00000000	A=0.00000000	PTEN-EGP_AD-060105	EGP_SNPS
EGP_CEPH-PANEL	38	G=0.84210497	A=0.15789500	PTEN-EGP_CEPH-060105	EGP_SNPS
EGP_HISP-PANEL	42	G=0.76190501	A=0.23809500	PTEN-EGP_HISP-060105	EGP_SNPS
EGP_ASIAN-PANEL	48	G=0.66666698	A=0.33333299	PTEN-EGP_ASIAN-060105	EGP_SNPS

dbSNP summary of Genotypes for ss38349670

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	20	20	G=0.94999999	A=0.05000000	G/G=0.89999998 A/G=0.10000000	Pr(chiSq=0.003,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	42	42	G=0.76190478	A=0.23809524	G/G=0.61904764 A/G=0.28571430 A/A=0.09523810	Pr(chiSq=0.948,df=1) =0.343	Genotype Freq.
EGP_CEPH-PANEL	38	38	G=0.84210527	A=0.15789473	G/G=0.68421054 A/G=0.31578946	Pr(chiSq=0.194,df=1) =0.752	Genotype Freq.
EGP_ASIAN-PANEL	48	48	G=0.66666669	A=0.33333334	A/G=0.50000000 G/G=0.41666666 A/A=0.08333334	Pr(chiSq=0.375,df=1) =0.584	Genotype Freq.

Submitted individual genotype for ss38349670

There is no individual genotype data for ss38349670.

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