Submitted SNP(ss) Details: ss38349680

Submitted SNP(ss) Details: ss38349680

Submitter
Handle	EGP_SNPS
Submitter SNP ID	PTEN-011407
RefSNP(rs#)	rs34490612
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	22
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: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 AGTTTCTGAT TCAGTAGGTC TGGATTGGGA CCTGAGAATT TTTATTTCTT AGAAGTTTTC
 AAGTGATGCT GATGCTGGTG CTCTGGGGAT CACACTTTGA GGACCACCAA TGAACATTAT
 CTCCCACCAA GCAAACCCTT AACATGTTAT ACTCCTTTAG GTTATTAGAA TTTATACATG
 CATTATTTCA TTTGACCTGT AAACTCTAAG TAACTTTGCA TGGAAAATGT TATCCTGATT
 TTATAGACGA GATAG
 Y
 GAGTTTAGAA AGGCAGTATG GTGGAATGGA GCATAGATTT GGAGTTGGCT AGACCTAAAG
 TCCAGATTAA ATCTCTGCTC AAGGCTGGGC GTGGTGGCTC ATGCCTGTAA TCCCAGTGCT
 TTGGGAGGCC AGCGTTGGCA GATTGCTTGA GTCTGGAAGT TCGAGACCAG TCTGGGCAAC
 ATAGGCAGAC CCTGTCTCTA CAAAAAAAAA TACAAAAATT AGTCGGGTGT TATAGTGCGC
 ATTGGTAGTC CCAGC

Submitted Frequency for ss38349680

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_HISP-PANEL	42	T=0.95238101	C=0.04761900	PTEN-EGP_HISP-060105	EGP_SNPS
EGP_CEPH-PANEL	40	T=1.00000000	C=0.00000000	PTEN-EGP_CEPH-060105	EGP_SNPS
EGP_YORUB-PANEL	22	T=1.00000000	C=0.00000000	PTEN-EGP_YORUB-060105	EGP_SNPS
EGP_AD-PANEL	30	T=1.00000000	C=0.00000000	PTEN-EGP_AD-060105	EGP_SNPS
EGP_ASIAN-PANEL	46	T=1.00000000	C=0.00000000	PTEN-EGP_ASIAN-060105	EGP_SNPS

dbSNP summary of Genotypes for ss38349680

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	42	42	T=0.95238096	C=0.04761905	T/T=0.90476191 C/T=0.09523810	Pr(chiSq=0.005,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss38349680

There is no individual genotype data for ss38349680.

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