Submitted SNP(ss) Details: ss3179289

Submitted SNP(ss) Details: ss3179289

Submitter
Handle	GENAISSANCE
Submitter SNP ID	GEN972
RefSNP(rs#)	rs2232032
Submitted Batch ID	010601
Submitted Date	Jul 19, 2001
Publication Cited	[1] Haplotype Variation and Linkage Disequilibrium in 313 Human Genes
First entry to dbSNP	Jul 19 2001 12:00:00:000AM

Resource Links
GenBank Accession	AC005519.3
Submitted Gene Name	FLJ10811
Submitted Gene ID	N.D.
Submitted SNP Synonyms	N.D
Submitted linkout	N.D

Assay
Species	Homo sapiens
Molecular Type	Genomic
Method	Sequencing
Ascertainment Samplesize	1968
Population	GENAISSANCE_POP

Allele
Observed Allele	C/T
Ancestral Allele
Allele Origin	N/A
SNP Class	SNV
CpG Code	nonCpG

Validation
Validation Status
HWE Goodness of Fit	not applicable

Variation
Frequency Submission	N.D.
Genotype Summary	population count: 9
Genotype Submission	N.D.
Haplotype	N.D.

Comment
Variation [C/T Leu 53 Phe] mapped to exon 2 at nucleotide position 59670 in AC005519.3.

Fasta sequence (Legend)

 GGAGTGCGAA GGCCTGGAGG GTCTCATAGG TGCTTCCTTG GAGGCCAAGC AGGTCCTGTC
 TTCCTTCACT CTCCCCACCT GCCGGGAGGG AGGCCCTGGC
 Y
 TCCAGGTGCT GGAAGTGGAC TCGGTGGCCC TGAGCCTGTA TCCAGAAGAT GCTCCACGGA
 ACATGCTGCC GCTGGTGTGC AAGGGGGAGG GCAGCCTGCT

Submitted Frequency for ss3179289

There is no frequency submission for ss3179289.

dbSNP summary of Genotypes for ss3179289

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
HapMap-CEU	222	222	C=0.99099100	T=0.00900901	C/C=0.98198199 C/T=0.01801802	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HapMap-JPT	172	172	C=0.99418604	T=0.00581395	C/C=0.98837209 C/T=0.01162791	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HapMap-YRI	220	220	C=0.97272730	T=0.02727273	C/C=0.94545454 C/T=0.05454545	Pr(chiSq=0.005,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-MEX	100	100	C=0.97000003	T=0.03000000	C/C=0.94000000 C/T=0.06000000	Pr(chiSq=0.003,df=1) =1.000	Genotype Freq.
HAPMAP-MKK	286	286	C=0.98251748	T=0.01748252	C/C=0.96503496 C/T=0.03496503	Pr(chiSq=0.002,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss3179289

There is no individual genotype data for ss3179289.

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