NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Submitted SNP(ss) Details: ss52067282           
Submitter
HandleSI_EXO
Submitter SNP IDNT_011522.5_854958
RefSNP(rs#)rs1043731
Submitted Batch IDSI_EXO_20060323
Submitted DateMar 29, 2006
Publication Cited[1] A SNP-survey of human exons in 48 CEPH samples
First entry to dbSNPMar 29 2006 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodSI_EXOSEQ_1
Ascertainment Samplesize38
PopulationN.D.
Allele
Observed AlleleT/A
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency SubmissionN.D.
Genotype Summarypopulation count: 11
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
ExoSeq_class:SHW1Estimated_frequency:.15Minor_allele:T

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss52067282|allelePos=401|len=801|taxid=9606|alleles='T/A'|mol=Genomic
 AGTTCAAAAA AGTAGTTTGT GTGAAAGCTC CAAAAAAAGT TTCAGGAATC ACTGGGGGCA
 AATTAAGTTT CAATCATTAA ATTATTGCTT TGCTATAATA TCTGTATTTA CCCTGAAATT
 CCCATTACAG AAAAAGATTA GAGGAAGACA CAGAAAAAAA AAATTTAATA TTCAACATGC
 AAAACAACCT TTAAAAGAAA CATGAAATCA TAAAGCAAAG CTAACAGCCA ACCAACAAAT
 ACCGCCTAGC AATGATTTCC ACTGGATGTG GAAGAGGGTT AATAAAGACG CTGTTGGTAA
 CGCGTACAGA ACTATCACTG GCAATCAGCA TACTGAGCTA TCCAGTGGAG GCCAGCATCG
 TGTTTTTGCT AAAATACATG TTGTAGAAGT CATAATTCAT
 W
 GTGAAGAATC TCAACAGGTT TTCTTACAGA TTTAATTACT CTCACACAAA TAATTCATTT
 GGAAACCATA AAAGATACCT ATTTACACCT AAACTGCCTG GCCTTCCAGA GCGGGGACTA
 AAGGGGCAGG GCGGGGAAGA AAGCGAGCGT GTCGCGGGCT CTGTGGGGTT GCAGGGTCAC
 TGTTATTTTG ATCTGCTGAG CTCAAGGACT GGAAACGGAA TAAAAACGCC TACTCGCCTT
 AGGCAGGATA AGAAGTTGTA AACTCACCCA TCAGCAGCTG CCTCCACTTC TGAGGCTCCC
 CCTGCGGGAG GAGCTCTGAA CCCAGCCCTG AGGCCACTCG GTGTCCCGAG GAGTGCTCCA
 GGGCTCGGAG AAGGGGCTCA GGGGTCCTTT TGCCACTGAG

  Submitted Frequency for ss52067282 back to top
There is no frequency submission for ss52067282.


  dbSNP summary of Genotypes for ss52067282 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
HapMap-CEU226226A=0.83185840
T=0.16814159A/A=0.69026548
A/T=0.28318584
T/T=0.02654867
Pr(chiSq=0.017,df=1)
=1.000
Genotype
Freq.
HapMap-JPT172172A=0.99418604
T=0.00581395A/A=0.98837209
A/T=0.01162791
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.
HapMap-YRI226226A=0.98230088
T=0.01769911A/A=0.96460176
A/T=0.03539823
Pr(chiSq=0.001,df=1)
=1.000
Genotype
Freq.
HAPMAP-ASW9696A=0.96875000
T=0.03125000A/A=0.93750000
A/T=0.06250000
Pr(chiSq=0.003,df=1)
=1.000
Genotype
Freq.
HAPMAP-GIH170170A=0.86470586
T=0.13529412A/A=0.72941178
A/T=0.27058825
Pr(chiSq=0.525,df=1)
=0.479
Genotype
Freq.
HAPMAP-LWK180180A=0.93888891
T=0.06111111A/A=0.88888890
A/T=0.10000000
T/T=0.01111111
Pr(chiSq=1.488,df=1)
=0.251
Genotype
Freq.
HAPMAP-MEX9696A=0.92708331
T=0.07291666A/A=0.85416669
A/T=0.14583333
Pr(chiSq=0.042,df=1)
=1.000
Genotype
Freq.
HAPMAP-MKK278278A=0.91366905
T=0.08633094A/A=0.83453238
A/T=0.15827338
T/T=0.00719424
Pr(chiSq=0.001,df=1)
=1.000
Genotype
Freq.
HAPMAP-TSI176176A=0.81818181
T=0.18181819A/A=0.65909094
A/T=0.31818181
T/T=0.02272727
Pr(chiSq=0.424,df=1)
=0.527
Genotype
Freq.

  Submitted individual genotype for ss52067282 back to top
There is no individual genotype data for ss52067282.

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement