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Submitted SNP(ss) Details: ss12992583           
Submitter
HandleSC_SNP
Submitter SNP IDNT_004321.15_1048783
RefSNP(rs#)rs9424290
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 Samplesize14
PopulationN.D.
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG Codec/t_g
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency SubmissionN.D.
Genotype Summarypopulation count: 6
Genotype SubmissionN.D.
HaplotypeN.D.
Comment
sequence:1bB531C17-23d07.q1cposition:477quality:40sequence:1bB531C17-23c06.q1cposition:512quality:40sequence:1bB15E13-2o18.p1kposition:-234quality:43sequence:1bB15E13-2k11.p1kposition:-259quality:45sequence:1bB531C17-3b07.q1cposition:-299quality:51sequence:1bB531C17-19e06.q1cposition:-197quality:40sequence:1bB531C17-3h01.p1cposition:-204quality:56sequence:1bB531C17-19h10.q1cposition:601quality:24sequence:1bB531C17-15h11.q1cposition:510quality:26sequence:1bB531C17-3b06.q1cposition:-91quality:37sequence:1bB15E13-3b19.p1kposition:410quality:56sequence:1bB15E13-2d13.p1kposition:513quality:56sequence:1bB15E13-2l09.p1kposition:-139quality:45

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss12992583|allelePos=201|len=401|taxid=9606|alleles='C/T'|mol=Genomic
 AGCACACCTG GCAATCCCAC AACACATTGT GAACCCAAGA AAGTGCATTC CTGTGCATCC
 TGGAAGACAC CAGAACGCTG TGGCAACATT GTTTATCATG GTCCCAAACT GGACGCAGCC
 CTGGCGCACA GCGGAAGGTG GATGAAGGTG CTGTGGTCCA TTCAAGCAGT GGACACTATA
 AAGCAAGAAA TCCAACATGA
 Y
 GCCACATGGT TCCGTTTCTA CAAAGCTCAA AGAGCAAGGA GGACCCATTT GTGGTGTCAG
 AAATCAGACC CCTGCTGACT CTGGAAGGAG CCCCGAGGGG AGGTGGCGGC ACAGCATGTT
 TCCGGTTCAC TGGGCTGTCT GTCATATGGA ATGACTCGCA CGCATTTGCG GGTGTGTGCT
 TGGCTTCAGT TACTTTTCTC

  Submitted Frequency for ss12992583 back to top
There is no frequency submission for ss12992583.


  dbSNP summary of Genotypes for ss12992583 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=0.92105263
T=0.07894737C/C=0.85964912
C/T=0.12280702
T/T=0.01754386
Pr(chiSq=1.379,df=1)
=0.251
Genotype
Freq.
HapMap-HCB
EAST ASIA
9090T=0.67777777
C=0.32222223T/T=0.48888889
C/T=0.37777779
C/C=0.13333334
Pr(chiSq=0.821,df=1)
=0.371
Genotype
Freq.
HapMap-JPT9090T=0.57777780
C=0.42222223C/T=0.53333336
T/T=0.31111112
C/C=0.15555556
Pr(chiSq=0.390,df=1)
=0.584
Genotype
Freq.
HapMap-YRI120120C=0.97500002
T=0.02500000C/C=0.94999999
C/T=0.05000000
Pr(chiSq=0.002,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss12992583 back to top
There is no individual genotype data for ss12992583.