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: ss18293899           
Submitter
HandleSC_SNP
Submitter SNP IDSC-CHR1_NA07340-200402.chr1.NT_021973.16_739235
RefSNP(rs#)rs12143647
Submitted Batch IDSC-CHR1_NA07340-200402
Submitted DateFeb 20, 2004
Publication Cited[1] SNPs detected by comparing chromosome and DNA specific sequences to NCBI Genomic Reference Sequence using SsahaSNP
[2] SSAHA: A Fast Search Method for Large DNA Databases
First entry to dbSNPFeb 20 2004 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type		Genomic
MethodCHR1_NA07340
Ascertainment Samplesize2
PopulationN.D.
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeUnknown
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency SubmissionN.D.
Genotype Summarypopulation count: 15
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
sequence position qualityS1C_2-3p23.q1k 579 42

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss18293899|allelePos=501|len=830|taxid=9606|alleles='C/T'|mol=Genomic
 AGGTTTTATA CTAATTGTGA ACTCATCTTC AATTTTTCCT CCTTTTGTTC AGTTTCCATG
 ACTTCCTGAT TCTCTTTCAT AAATatccca ttacttttca ccattgccat tgtcccagtc
 caggccttgt catctgctgt ccacaataat agaatcttcc caccctgtct ccctgcttcc
 agtctctccc tctctagtct aggcttctga ctgtcacatt tacccagaaa tctgagattc
 atagatttct tcatgaatct ttagtggctt ctcagtgcgc atggaggaag atccaggctt
 ctcgaagcag ggcatgaggc cctttttgtt cttgcctggt agctctccac tgtagaaact
 ttccctccat agccctggat gctccagcca cacagtgcta gctgcctttc cccagctccc
 ttgtactcac gtgcttctgc gtttttcctc tgcctgCCCT CCCCTTCCTG TGCCCTTTGT
 TTTCCTGTCA AACTGCCTCT
 Y
 CACATGAAGC TCCAGCTCAG ATACCACCTC CTTCAAGAGA CCATCCTTga ccgggcgtag
 tggctcacac ctgtgatccc agcactttgg gaggccaagg caggtgaatc gcttgaggcc
 aggagttcaa gaccagcctg ggcaacatga caaaacccca tcttaaaaaa aaaaaaaGGC
 CATTTTTTCT CCTAATGTTC AGCATTCATC ATGTCCTCTG GATTGCAGGA TGTGTTGCTC
 TTGGGTCTGC TGAGTACTGA TTTCCATGTT GCATTATGAT CACCTCTCCG CTGCTCACAC
 CTTCCCCTGC CTCTTGACAC AGTGTCTTA

  Submitted Frequency for ss18293899 back to top
There is no frequency submission for ss18293899.


  dbSNP summary of Genotypes for ss18293899 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-CEU226226C=0.80973452
T=0.19026549C/C=0.65486723
C/T=0.30973452
T/T=0.03539823
Pr(chiSq=0.003,df=1)
=1.000		Genotype
Freq.
HapMap-HCB
- EAST ASIA 		8686C=0.89534885
T=0.10465116C/C=0.81395346
C/T=0.16279070
T/T=0.02325581
Pr(chiSq=0.741,df=1)
=0.403		Genotype
Freq.
HapMap-JPT172172C=0.85465115
T=0.14534883C/C=0.72093022
C/T=0.26744187
T/T=0.01162791
Pr(chiSq=0.503,df=1)
=0.479		Genotype
Freq.
HapMap-YRI226226C=0.97345132
T=0.02654867C/C=0.94690263
C/T=0.05309734
Pr(chiSq=0.004,df=1)
=1.000		Genotype
Freq.
HAPMAP-ASW9898C=0.95918369
T=0.04081633C/C=0.91836733
C/T=0.08163265
Pr(chiSq=0.007,df=1)
=1.000		Genotype
Freq.
HAPMAP-CHB8282C=0.86585367
T=0.13414635C/C=0.75609756
C/T=0.21951219
T/T=0.02439024
Pr(chiSq=0.124,df=1)
=0.752		Genotype
Freq.
HAPMAP-CHD170170C=0.86470586
T=0.13529412C/C=0.75294119
C/T=0.22352941
T/T=0.02352941
Pr(chiSq=0.170,df=1)
=0.752		Genotype
Freq.
HAPMAP-GIH176176C=0.84090906
T=0.15909091C/C=0.71590906
C/T=0.25000000
T/T=0.03409091
Pr(chiSq=0.379,df=1)
=0.584		Genotype
Freq.
HAPMAP-LWK180180C=0.97222221
T=0.02777778C/C=0.94444442
C/T=0.05555556
Pr(chiSq=0.004,df=1)
=1.000		Genotype
Freq.
HAPMAP-MEX100100C=0.82999998
T=0.17000000C/C=0.68000001
C/T=0.30000001
T/T=0.02000000
Pr(chiSq=0.199,df=1)
=0.752		Genotype
Freq.
HAPMAP-MKK286286C=0.95804197
T=0.04195804C/C=0.91608393
C/T=0.08391608
Pr(chiSq=0.023,df=1)
=1.000		Genotype
Freq.
HAPMAP-TSI176176C=0.84659094
T=0.15340909C/C=0.71590906
C/T=0.26136363
T/T=0.02272727
Pr(chiSq=0.003,df=1)
=1.000		Genotype
Freq.

  Submitted individual genotype for ss18293899 back to top
There is no individual genotype data for ss18293899.

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