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: ss12992579           
Submitter
HandleSC_SNP
Submitter SNP IDNT_004321.15_1044513
RefSNP(rs#)rs9424288
Submitted Batch IDCHR1_Overlap_SNPs
Submitted DateOct 22, 2003
Publication Cited[1] Overlap SNPs found by comparing shotgun reads to NCBI Genomic Reference Sequence using SsahaSNP
[2] SSAHA: A Fast Search Method for Large DNA Databases
First entry to dbSNPOct 22 2003 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodCHR1_OVERLAP_SNPS
Ascertainment Samplesize12
PopulationN.D.
Allele
Observed AlleleA/C
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: 4
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
sequence:1bB15E13-3f18.p1kposition:381quality:51sequence:1bB531C17-22f05.q1cposition:-207quality:44sequence:1bB15E13-3c23.q1kposition:-285quality:50sequence:1bB531C17-16g04.p1cposition:281quality:56sequence:1bB15E13-1p16.q1kposition:-529quality:29sequence:1bB15E13-3d01.q1kposition:200quality:51sequence:1bB15E13-1f06.p1kposition:371quality:56sequence:1bB15E13-2e24.p1kposition:166quality:56sequence:1bB15E13-2p18.p1kposition:231quality:56sequence:1bB15E13-1c05.p1kposition:546quality:29sequence:1bB531C17-9g08.q1cposition:264quality:56

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss12992579|allelePos=251|len=1057|taxid=9606|alleles='A/C'|mol=Genomic
 AGGAGACACA GATGTTGGGA GAGACAAGGT TAAATAAAGC CTGCAGCTCA GAACGGGAAG
 GGGAAGTGTG TGTGCATGAG TGATGGAGCT TACTTCCCTT Gatttctcct ggctgtgtcc
 actgagagtc cagccacagc gaactaccca gcagcagtgg gcatgaggcc cccagcgctg
 tcctgagaca tccattcctg ctaatgggaa ccaggcctct gtgcccagat ggctgattcc
 aggtccgggg
 M
 aggaaggcac caaacaggag ggagctctct gaggctgcgt ggctctcatc caggcctcag
 gagcccagct gaagagtctg ccataggcta gagctgggat aattcacgca tcactaagca
 tggtaactgc tgtgactgga acacattgaa taatttaaat ccatggttca taacgacact
 acagacaaaa caaaacaaat tagctgccat ggaagatgct agtgacccag cttactattc
 tgaaaaccag taaaccaagg aaaaaaatta aaccttcact ctgcctttcc aatagaaagt
 ctaacctagg gtcaccacag agtggacgag cttctgctta gaggaatatc ccagcagatg
 aacgaaggag ggatgacaga atgaggcccc tcctgagtcg gtgggttagg ccttgagcct
 cagcagctgc caccgtcaca catatcacgc gcctcccggg ggacacacca gcattgcctg
 tgaagcggcc acactcacac cgagcctgtg cacacctgat gaggcccaga gatcccacct
 cctgtttaca ggaaatacag ggacagagaa acaggttaag cgcccccaag ggaacgtagt
 cagcagatcc agacgatgag aagccctacg gggcaaacag ctccttcctt caccaagtga
 atcataagga aaaagaacga gagaatgaac ctgttcaaaa cagacCAACC AGGCACCGGG
 GCCTTCTATG GATCCCGGTA ATCAGATGCT TCTGACCTGA TGAGATGGCG GCAATGTGAC
 TGACGTCTGG AAGGCTGAGG CTGCTG

  Submitted Frequency for ss12992579 back to top
There is no frequency submission for ss12992579.


  dbSNP summary of Genotypes for ss12992579 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-CEU114114C=0.56140351
A=0.43859649A/C=0.45614034
C/C=0.33333334
A/A=0.21052632
Pr(chiSq=0.310,df=1)
=0.584
Genotype
Freq.
HapMap-HCB
EAST ASIA
8888C=0.71590906
A=0.28409091C/C=0.52272725
A/C=0.38636363
A/A=0.09090909
Pr(chiSq=0.111,df=1)
=0.752
Genotype
Freq.
HapMap-JPT9090C=0.60000002
A=0.40000001A/C=0.48888889
C/C=0.35555556
A/A=0.15555556
Pr(chiSq=0.015,df=1)
=1.000
Genotype
Freq.
HapMap-YRI116116C=0.97413790
A=0.02586207C/C=0.94827586
A/C=0.05172414
Pr(chiSq=0.002,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss12992579 back to top
There is no individual genotype data for ss12992579.