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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs27270          
refSNP ID: rs27270
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:76/129
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 ss5308991 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs27270 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
ss33890KWOK|OVLP-25981fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt04/28/0010/10/0376Genomic99 %
ss33916KWOK|OVLP-26014fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt04/28/0010/10/0376Genomic99 %
ss33998KWOK|OVLP-26124fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt04/28/0010/10/0376Genomic99 %
ss34051KWOK|OVLP-26255fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt04/28/0010/10/0376Genomic99 %
ss42401KWOK|OVLP-103562byFreqfwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt04/28/0004/07/0476Genomic99 %
ss316942KWOK|OVLP-000621-9054fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt06/30/0010/10/0379Genomic99 %
ss324183KWOK|OVLP-000621-32551rev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata06/30/0010/10/0379Genomic99 %
ss325300KWOK|OVLP-000621-36304fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt06/30/0010/10/0379Genomic99 %
ss325709KWOK|OVLP-000621-37625fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt06/30/0010/10/0379Genomic99 %
ss325871KWOK|OVLP-000621-38328fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt06/30/0010/10/0379Genomic99 %
ss638904SC_JCM|AC026788.2_91723fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt07/12/0010/10/0380Genomicunknown
ss1092419KWOK|OVLP-000804-140408fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1093886KWOK|OVLP-000804-153808rev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata09/02/0010/10/0386Genomic99 %
ss1098130KWOK|OVLP-000804-178853fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1099661KWOK|OVLP-000804-187669fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1103953KWOK|OVLP-000804-212818fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1105262KWOK|OVLP-000804-219937fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1106510KWOK|OVLP-000804-228540fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1107145KWOK|OVLP-000804-234241fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic99 %
ss1219756KWOK|OVLP-000804-223412fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/02/0010/10/0386Genomic97 %
ss1601559KWOK|OVLP-000925-367020fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1603231KWOK|OVLP-000925-380028fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1606735KWOK|OVLP-000925-416566fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1607127KWOK|OVLP-000925-421549fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1607812KWOK|OVLP-000925-426913rev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata10/04/0010/10/0387Genomic99 %
ss1609582KWOK|OVLP-000925-444114fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1610876KWOK|OVLP-000925-457775fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1611261KWOK|OVLP-000925-460827fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic99 %
ss1641414KWOK|OVLP-000925-419155fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic97 %
ss1642601KWOK|OVLP-000925-455361fwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt10/04/0010/10/0387Genomic97 %
ss5308991TSC-CSHL|TSC1636486byFreqfwd/TA/Gtatgattctggaatgtcttcatgaaaagtaagtgttattcaattgttcaaatatttctgt09/20/0204/07/04108Genomicunknown
ss24411050PERLEGEN|afd3118142byFreqrev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata08/10/0409/13/04123Genomicunknown
ss44614996ABI|hCV933022rev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata07/19/0507/19/05126Genomicunknown
ss66285059AFFY|SNP_A-1807949byFreqfwd/TA/Ggtcttcatgaaaagtaagtgttattcaattgt10/29/0608/14/07127Genomicunknown
ss68933967PERLEGEN|PGP03118142byFreqrev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata01/30/0708/14/07127Genomicunknown
ss75944765AFFY|AFFY_6_1M_SNP_A-1807949fwd/TA/Ggtcttcatgaaaagtaagtgttattcaattgt08/28/0708/29/07129Genomicunknown
ss78123395HGSV|Cor12878_SNV_20070510.chr5_50219469rev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata10/17/0710/18/07129Genomicunknown
ss93087735BCMHGSC_JDW|JWB-1973452rev/BC/Tacagaaatatttgaacaattgaataacacttacttttcatgaagacattccagaatcata02/26/0803/03/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs27270|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GCAGTTGAAA TGAATATGAG TTATATGTAT GTGTTGGGAG TGTGAGGGGC AGATGCAATG
 GGAAAATCAG ACTGATGAAA GAATAAGAGT TCTTTTGAGG CACTGTGGAA GATGGTTCAA
 TGGGAGCCAG TTAATTAGGG GCTTTGAAGG CTGAGTTGCA GAATTTGAAA CAAGTACAAA
 AGGCAGAGGG GAACCATTAA CAACTATGAT TCATGGTGAA CTTTGCATGT GATTGAGCAG
 GGAAGTAGGA ACGCCAATGA AGTATTTTTT CCACATGGCA GATGAGAGGT GGTGAGAGTG
 ATAGTGAGGC TGGGAAATCT CAAGCGAAGC GGAAATGAAG GATGAAAGAA AGATATTGGG
 AAAAGCTCTT AGGAACTCTA GATAATAACT GCTAGGTGCT AGGCATCAGC CTATTACAGT
 AAGGTCACTT TCAAGTAAAG AATAATATCA AAGAGCCTAG GGCTTGTCTT TATGATTCTG
 GAATGTCTTC ATGAAAAGTA
 R
 AGTGTTATTC AATTGTTCAA ATATTTCTGT GGACAAGCAT TTAAGGAAGA TTTGGAAACT
 GGGCAACATT ACACACTTCT GATAATTGGT AGATTTATAA TACTTACGTC AAAGGCCACC
 AGAAGAGAGA ATACTTCATA GCTATAGAAG AGAAAGTCCT TCCATGTGCA GACAGAATCG
 CCAAATATGT CCTATGTTAC CTAGCAAAGA AGTGATGATG CAATTATTTC ACTAGAAAAG
 TAGATGGGCA AGGTCAATTC TTAAAAAGCT ATCAGGTGGA AGAGGATTGA CTGTTAGGAT
 AGTTTTAGAC ATGCTTATTT TTCAATAATG CTTATTTTTC AATAATGCTT ATTTTATTAT
 GAATAAGATA AAATTGATAA TAATTATGGA CCCATGCTCG TTTGACAACA ACAAAGCAGA
 TTTTAGGTTA GGCATATTTG AGTACAAAAA ACGGTGAACA ACTAAAGCCA GATTTTTTTT
 TCTGGATTTT GTGAATTCAC

  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:  rs27270 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_922607.174560347130217minusCalt_assembly_1CeleraCeleraview500
5NW_001838934.175537247148052minusCalt_assembly_8HuRefHuRefview500
5NT_006713.1477807150219469minusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000005.8 AC008831 AC026788.2 AC027325.2 AC027333 AC027333.2 AC027350 AC027350.2
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC008831.7 AC022441.5 AC026788.4 NC_000005.8 AC016631.6 AC027325.3 AC027350.3 AC114927.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
N
ss24411050AFD_EUR_PANELEuropean 48IG 0.125 0.458 0.417 1.000 0.354 0.646
AFD_AFR_PANELAfrican American 46IG 0.174 0.826 0.655 0.087 0.913
AFD_CHN_PANELAsian 48IG 0.167 0.833 0.752 0.083 0.917
ss42401C 60AF 0.700 0.300
B 60AF 0.750 0.250
A 60AF 0.600 0.400
ss5308991HapMap-CEUEuropean 120IG 0.150 0.417 0.433 0.479 0.358 0.642
HapMap-HCBAsian 90IG 0.022 0.289 0.689 1.000 0.167 0.833
HapMap-JPTAsian 90IG 0.289 0.711 0.294 0.144 0.856
HapMap-YRISub-Saharan African 120IG 0.033 0.350 0.617 0.752 0.208 0.792
CHMJAsian 74IG 0.189 0.797 0.014
ss66285059HapMap-CEUEuropean 118GF 0.153 0.407 0.441 0.356 0.644
HapMap-HCBAsian 90GF 0.022 0.289 0.689 0.167 0.833
HapMap-JPTAsian 90GF 0.289 0.711 0.144 0.856
HapMap-YRISub-Saharan African 120GF 0.033 0.350 0.617 0.208 0.792
ss68933967HapMap-CEUEuropean 120GF 0.150 0.417 0.433 0.358 0.642
HapMap-HCBAsian 90GF 0.022 0.289 0.689 0.167 0.833
HapMap-JPTAsian 90GF 0.289 0.711 0.144 0.856
HapMap-YRISub-Saharan African 120GF 0.033 0.350 0.617 0.208 0.792

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.346+/-0.2313322602700

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .