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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs235195          
refSNP ID: rs235195
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss1655483 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs235195 during BLAST analysis for the current build.

NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss303653KWOK|OVLP-000621-332279fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa06/30/0010/10/0379Genomic97 %
ss485718SC_JCM|AC010102.3_65321fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa07/12/0010/10/0380Genomicunknown
ss1270325KWOK|OVLP-000804-220147fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa09/02/0010/10/0387Genomic94 %
ss1655483KWOK|OVLP-000925-530404byFreqfwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa10/05/0010/25/0687Genomic94 %
ss2927614TSC-CSHL|TSC0929100fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa01/26/0110/10/0394Genomicunknown
ss8330780SC_SNP|NT_011362.7_22598611fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa04/17/0310/10/03117Genomicunknown
ss23787515PERLEGEN|afd4191126byFreqfwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa08/10/0409/13/04123Genomicunknown
ss69246467PERLEGEN|PGP04191126byFreqfwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa01/30/0708/14/07127Genomicunknown
ss75035272ILLUMINA|ILMN_Human_1M_rs235195fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa08/28/0708/29/07129Genomicunknown
ss83566403HGSV|Cor18555_SNV_20070510.chr20_56979160fwd/TA/Gcagccattaaaaaaaaaagccaggagcgatgctcacacttgggaggcagaggcaggataa11/27/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs235195|allelePos=2195|totalLen=3274|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGGGACCTCA TATGCATCAT GCCAGGAAGC ACGGCAGGAG GCCCTTCAGA TTGATGTTTG
 ACCATCCCTA CAATGAAGGC AAAAGCAGCC TTTCTCCAAT TTGAGCTTGA AAAATCCTCC
 ATGAGGACTC GTTAGGAAAA TATACATATA TATATATACA CATATGTGAC aaaaaattaa
 aacaaacaaa agtggaaaaa ttgtactttt aaaaaatgtt atgtactcat cactggattt
 caacaattat caacaaacgg gcaatcatgt ttcatctgta catccaccct ccactggatt
 attttaaagc aaatcccaaa tattctgtca cttcctctga aatacttctg acgtatcgta
 aggagtttta aaaacttaat cataatgcca atatcatgct aaaaaattag caaaaatgcc
 ttaataccat cagcatagtc aaccagtgtt cacatttcTC TAGCTGTCTT AAAAATTGAA
 AAACTGGAcc agagcaattg ggcaagagaa agaagtaaag gggatccaaa ttggaaggga
 agaagtcaag ttagccttgt tcacaaacaa catgatctta tacctaaaat aacccaaaga
 tttcaccaaa aaaccattag aactgataaa caaatttggt aaatttgcag gatacaaaat
 caacatccaa aagtcagtag cacttatata tgtcaatagc gaacaatctg ttaaaaaaaa
 tcaagaaagc aatcgcattt ataatagcta caaagaatat taaataccta ggaatcaatc
 taaccaaaga agtgaaaggt ctatacaagg aaaactataa aactccaatg aaaaaaatag
 aaaaggacat acaaaaaagt gaaaagatat tccatcctca tggattgaaa gaattaatag
 tattgaaatg acaatactat ccaaagcaat ttacagattc aatgcaatcg ctatcagaaa
 taccaatgac attcacagaa atagaaaaaa aaatcctaaa atttatatag aaccacaaaa
 gactctgtat tgccaaagca atcctaagca aaaagaacaa agttggaggc atcacactac
 aaacttcaaa atatattaca aagctatagt aacccaaaca gcatggcact ggcataaaaa
 cagacaaata taccaataga acagaataga ggacccagat ataaatccac acattcatat
 ccaattcatc tttgacaaag gtacaaagaa cgtacaatgg aaaaaggata gtcttttcaa
 caaatgctgc tggaaaaact ggataaacta tatgcagaag aatgaaacta aacccctatc
 actcagcata cacaaaaatc aaatcaaaat ggattaagat ttgaatgtaa cacctgaaat
 tatgaaacta ctaaaagaga acatttggaa aatgctccaa gacattggtc tcgggcaagc
 aaagattttt ttgtgtaaga cctcacaagt acaaacaaca aaagcaagtg aaaatagaca
 gatgggatta catcaagcta aacagcaaag gaaacaatca acaaaatgaa gagacaactc
 acagaatggc aggaaatatt tgcaaactac ccatttgaca agggattcat aatcagaata
 tataagaagc tcaaacaaca gcaaaaacaa aacaaaacaa aatacaatct gatttttaaa
 tgggcaaaag attggaatag acatttctca aaagaagcca tacaaatggc taacaggtat
 atgaaaaaat gttcaacatc actaatcacc agagaaatgc aaatcaaaac cacagtgcag
 tatcatttaa ccccagttaa aatggctgtg tcaaaagaaa caaagagtaa cagatgctgg
 taaggatgtg gagaaagggg aaccctccgt cttacactgc tgatgggaat gtcaactggt
 atagccccta tgggggacag tataaagctt cctcaaaaac ctaaaaataa aactaccaag
 tgatccagca attccactac tgtgtatata ttcaaaggaa agaaaatcaa tataccaaag
 cgacatctat gctcccatgt ttattgcagc actattcacg atagccaaga catggaagca
 actgaagtgc tcatcaacag atgaataaag agaaagtagt acacacacac gatggaatat
 tattcagcca ttaaaaaaaa aagccaggag cgat
 R
 gctcacactt gggaggcaga ggcaggataa tctcttggcg caagagttca agaccagcct
 ggacaacata gggagacccc atctctacta tattaaaaaa aaaaaaaaaa agccaggcat
 gatggtgtgt gcctgtagta ccagctactc tggaggctga ggggaggatt gcttaaacct
 gggagttcaa ggctgcaatg agccgtgatt gcaccactgc actccagcct aggcagcaga
 tcgagaaaaa aaaaaagaaa gaaagaaaga aagaaagaaa agatcctgtc acttgcagca
 acatggatgg aactggaggt tgttctgtaa agtgaaataa gctaggcaca gaaagacaca
 tatcacacat tctcactcat acatgggagc taaaaacgcg gctctcatgg agagagagta
 gaatgttggt taccagaggc tggaagggga gcagggaggg aggaataaag gggaaaaaaa
 gaatataaat gtatttataa ccactgaact gcatacttaa atatggtaaa gaggtaCTGA
 CCATTTTTGA TATGGGTTAA TAAAAAGGAA TAAGAGCAAA AAATTTAAAA AATGATAAAG
 AGAGCAAATT ACATAGGTAT ATTTTACCTC AATAAAAAGA AAAAAGAAAA AAAACTTGAA
 AAATTGGCtt caaatcagga tccaaacaag cttcactcat tgcatttggt ggctgtgtct
 ctgcagactc cttcaatcta caaattcctc ctcttttttc ctccttgtag cttttttttt
 ccccaagaaa ctgagccatg tgccatctag agttccccgc attccaggcc ttgtgtggca
 tctctgcagg gtctttccac aggatcctct gtctgacctc gttggctggt agatctagag
 gcctCCTTTC CCACGCTGGG GTGTGCAGGT GAGCTACCTC ACAGGTGGCA GGCGCTCCCT
 CAGCATCAAG ATGGGAGACA GCGAGCCTGC TGGCTTCTCT TTTCCTGAGC CTGGAGAAAG
 GTTTCAGGTG TCTCACCTGG CCATCATTTT AGGGCTTCCC ATCAGGTTTC TGCCTGAGG

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs235195 maps exactly once on NCBI human chromosome 20
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
20NW_927339.12778930254286193plusGalt_assembly_1CeleraCeleraview2194
20NW_001838667.2240720654332598minusCalt_assembly_8HuRefHuRefview2194
20NT_011362.92259866156979160plusGref_assemblyreferencereferenceview2194

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011362 AL109840 AL109840.24
dbSNP Blast Analysis
GenBank HTGS Finished:
AL109840.24

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1655483HapMap-CEUEuropean 120IG 0.217 0.783 0.371 0.108 0.892
HapMap-HCBAsian 90IG 0.222 0.778 0.403 0.111 0.889
HapMap-JPTAsian 90IG 0.111 0.889 0.752 0.056 0.944
HapMap-YRISub-Saharan African 114IG 0.140 0.860 0.584 0.070 0.930
ss23787515AFD_EUR_PANELEuropean 48IG 0.083 0.917 1.000 0.042 0.958
AFD_AFR_PANELAfrican American 46IG 0.261 0.739 0.479 0.130 0.870
AFD_CHN_PANELAsian 44IG 0.227 0.773 0.584 0.114 0.886
ss69246467HapMap-CEUEuropean 120GF 0.217 0.783 0.108 0.892
HapMap-HCBAsian 90GF 0.200 0.800 0.100 0.900
HapMap-JPTAsian 90GF 0.111 0.889 0.056 0.944
HapMap-YRISub-Saharan African 120GF 0.050 0.133 0.817 0.117 0.883
Concordant GenotypeTotal SampleA/AA/GG/G
ss165548326845220
ss23787515711356
ss69246467268345220
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs235195332357268
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
5174ss1655483A/GCSHL-HAPMAPHapMap-HCBNA18571CH18571r23_ch20_HCB_perlegen:genotyping_1.0.05714240
5174ss69246467G/GCSHL-HAPMAPHapMap-HCBNA18571CH18571chr20-HapMap-HCB
5244ss1655483A/GCSHL-HAPMAPHapMap-YRINA18860YOR012.01r23_ch20_YRI_perlegen:genotyping_1.0.05714240
5244ss69246467G/GCSHL-HAPMAPHapMap-YRINA18860YOR012.01chr20-HapMap-YRI
Genotype data submitted for341 samples from332 individualsIndividual with multiple genotypes submission:270

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .