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Submitted SNP(ss) Details: ss48418332           
Submitter
HandleAPPLERA_GI
Submitter SNP IDhCV25940033
RefSNP(rs#)rs12142199
Submitted Batch ID1-1
Submitted DateNov 30, 2005
Publication Cited[1] Natural Selection on Protein Coding Genes in the Human Genome
First entry to dbSNPSep 28 2005 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodAGI_ASP PIPELINE
Ascertainment Samplesize76
PopulationN.D.
Allele
Observed AlleleT/C
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: 13
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss48418332|allelePos=301|len=601|taxid=9606|alleles='T/C'|mol=Genomic
 AGGGGTTCCT GGTTCTCCGC TGAGCCCGGC TGCTGCAGGG CTTAATGGGA CAAGTGGTCG
 CGACTGGACT CAACCTGGCC CGTGCGTGGG CTGTGCAGAC ACGGGTGTTG GGGGTGACCC
 GGCCGAGTCC TGCCCTGCAG CATTCTCCCC TGTGGCCACT GTGCTGACTG GGCCGGTGGT
 CCCCAGGGAG CGCATGAACC TGAAGGTGCC CATCTACTTC TCCACGGGGC TGACCGAGAA
 GGCCAACCAC TACTACAAGC TGTTCATCCC CTGGACCAAC CAGAAGATCC GCAAGACTTT
 Y
 GTGCAGAGGA ACATGTTTGA GTTCAAGCAC ATCAAGGCCT TCGACCGGGC TTTTGCTGAC
 AACCCAGGAC CGATGGTGAG GCCCGCGGCA GGGCCGGCCA GCACATCCAC ACCCGTCGGT
 CTCCTGTCTT CCGCAGGTGT CTGGGCTTGG GCCTGCAGTG GGGGTGGGGG CATCTGCTGC
 CCTGACCCCC CACCTGGCCC TGTGTGTCCT GTAGGTTGTG TTTGCCACGC CAGGAATGCT
 GCACGCTGGG CAGTCCCTGC AGATCTTCCG GAAATGGGCC GGAAACGAAA AGAACATGGT

  Submitted Frequency for ss48418332 back to top
There is no frequency submission for ss48418332.


  dbSNP summary of Genotypes for ss48418332 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-CEU226226T=0.81415927
C=0.18584071T/T=0.65486723
C/T=0.31858408
C/C=0.02654867
Pr(chiSq=0.315,df=1)
=0.584
Genotype
Freq.
HapMap-HCB
EAST ASIA
8686C=0.95348835
T=0.04651163C/C=0.90697676
C/T=0.09302326
Pr(chiSq=0.009,df=1)
=1.000
Genotype
Freq.
HapMap-JPT172172C=0.99418604
T=0.00581395C/C=0.98837209
C/T=0.01162791
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.
HapMap-YRI226226C=0.98230088
T=0.01769911C/C=0.96460176
C/T=0.03539823
Pr(chiSq=0.001,df=1)
=1.000
Genotype
Freq.
AGI_ASP population
NORTH AMERICA
7474T=0.51351351
C=0.48648649T/T=0.40540540
C/C=0.37837839
C/T=0.21621622
Pr(chiSq=11.906,df=1)
=0.001
Genotype
Freq.
HAPMAP-ASW9898C=0.80612242
T=0.19387755C/C=0.69387758
C/T=0.22448979
T/T=0.08163265
Pr(chiSq=3.891,df=1)
=0.050
Genotype
Freq.
HAPMAP-CHB8282C=0.98780489
T=0.01219512C/C=0.97560978
C/T=0.02439024
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.
HAPMAP-CHD170170C=0.97058821
T=0.02941176C/C=0.94117647
C/T=0.05882353
Pr(chiSq=0.005,df=1)
=1.000
Genotype
Freq.
HAPMAP-GIH176176C=0.63068181
T=0.36931819C/T=0.51136363
C/C=0.37500000
T/T=0.11363637
Pr(chiSq=0.840,df=1)
=0.371
Genotype
Freq.
HAPMAP-LWK180180C=0.93333334
T=0.06666667C/C=0.86666667
C/T=0.13333334
Pr(chiSq=0.059,df=1)
=1.000
Genotype
Freq.
HAPMAP-MEX100100C=0.52999997
T=0.47000000C/T=0.46000001
C/C=0.30000001
T/T=0.23999999
Pr(chiSq=0.294,df=1)
=0.655
Genotype
Freq.
HAPMAP-MKK286286C=0.82867134
T=0.17132868C/C=0.69930071
C/T=0.25874126
T/T=0.04195804
Pr(chiSq=1.127,df=1)
=0.294
Genotype
Freq.
HAPMAP-TSI176176T=0.85227275
C=0.14772727T/T=0.72727275
C/T=0.25000000
C/C=0.02272727
Pr(chiSq=0.005,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss48418332 back to top
There is no individual genotype data for ss48418332.

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