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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7276240          
refSNP ID: rs7276240
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
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 ss10976195 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7276240 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
ss10976195BCM_SSAHASNP|chr21.NT_011512.8_25178918byFreqfwd/BC/Gcctatttcattcttcacaagcaatatatcccttttctcatattactgcattaagactccc06/30/0310/25/06116Genomicunknown
ss16236442SC_SNP|NT_011512.9_25178919fwd/BC/Gcctatttcattcttcacaagcaatatatcccttttctcatattactgcattaagactccc11/18/0311/22/03120Genomicunknown
ss16910217CSHL-HAPMAP|CSHL-HuAA-200402.chr21.NT_011512.9_25178919fwd/BC/Gcctatttcattcttcacaagcaatatatcccttttctcatattactgcattaagactccc02/17/0403/04/04120Genomicunknown
ss21830445SSAHASNP|WGSA-200403-chr21.chr21.NT_011512.9_25178919fwd/BC/Gcctatttcattcttcacaagcaatatatcccttttctcatattactgcattaagactccc03/20/0403/20/04121Genomicunknown
ss41487788ABI|hCV2439434fwd/C/Gcctatttcattcttcacaagcaatatatcccttttctcatattactgcattaagactccc07/17/0507/17/05126Genomicunknown
ss82174091HGSV|Cor19240_SNV_20070510.chr21_38440393fwd/C/Gcctatttcattcttcacaagcaatatatcccttttctcatattactgcattaagactccc11/30/0712/02/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7276240|allelePos=2161|totalLen=3074|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 AGAGCTCAAC CACTAGAACA AAAGGTCTCT CCCTACCCCC TCCTTCTAAG GGTGGACTCC
 TTGCTACTAG CAGGGAGCCA GACAGTCTTC TTAGACGTTC CCCTGAAAGT AAAGCTGCTA
 CCTGCTCACC CTTAGGCAGC TACACCTGAT TCCAAGCTCT TTCAGTATCT TGAAATTGCT
 CGATTCTCTT TCTTTTTCGt ttctcaatat attttatttt tagagcagtt tatgttcaca
 gcaaaattga gaagaaagta cagaaagttt ccacacaccc ccagtctcca tacatgatgg
 catcacccta gtcagcagtc cacaccagag tggtacattt gttacaaatg atgaatccgc
 actgacaact tataatcacc caaagcccat agtctaagtt agggtcactc tcagtgccat
 atattttatg tgatttgact atatgtaatg acaggtatcc acagagatac ctgtatgaca
 gagtgccatg cagaacagtt tcactgcact gaaaatcctc tgggatcctc ccattaatca
 ctccctccca ccaacctctt ttcattgttt ccatagttgt gcccttttac agaatgccag
 accattataa caacacagta tggagccttt ttagattggc atctttctga gttttggaaa
 ttatgtaaaa acctgctcta catgtccctg agaaggtttt gattggatat aagttttcaa
 ctcgcttgtg aaaataccaa gaagtatcct tgatgaattg tatggtagga atctgtttag
 ttttgtaagt aacagccaaa ttgtcttctg aagtgctagt aatatttttc ataatcacca
 gcaatgaatg agagttcctg ctgccccaca tcctcaccag catttggtgt tgtcagggtt
 ttatatcttg tctgttctaa taaaagtgta gtgccatctc attgttgctt tgacttgcag
 tttcctgatg acatatgatg ttgagagttt tttcatatgc tcatttgcca tatttatatc
 ttttttgaca gagtgtctgt tcaggccttt tgcccattct ttaataggtt gttcattttt
 ttgttgttgt tgagttgcaa gtattctttg aatatcttga ataatatttc tttccagata
 tgtactatga aaatattttt cttccagtcc atggcttgtc ttctcattct cttgacaatg
 tctctCACAG AATTTTGGGT CTTTTTTGTT TGTTTTTAAA TTTCAATGAA GGTCAGCATA
 TTACCACTGT ATTCATGGtg aATTagattt tctcctgtct tcttctaggg gttttatagt
 tttgtgttta catttaggtc tgtgacccat tatgagttaa tttttgaaag gggtgtaagg
 gctaggccta tagtcatttt ttttttcctg catgtggatg tttagttgtt acagcaccat
 ttcttgaaca gattatcttt tctccattgt actgcctttg attctttgta aaaaatcatc
 agttaactat atttgtgtag atctatatct gaggtctgta ttttgttcct ttgatctatt
 tgcctattgt tttgccaata caacactctc ctgatgatta tggcattgta ataagtatgg
 aaggtgaata atatcagtcc tttcactcta ttattcttta atattgtatt gattattttg
 agtcttttta tcctcatata aactttagaa gcagtttatc aaaatccaca aaataatttc
 ctggggttta gattgggatt gtgttgagtc tataggtcaa cttggacaaa agtagcatct
 tgacaatatt gagtctttat agaaataaaa ataaaatatt tctccattta tttagctgtt
 tgatttcttt catcagaatt ttgttgtttt cgtcttgtac ttattttgtt agatttataa
 gtatctcatt tcagaaagtg ctaattttaa tggaaaacaa tttattttta attaaaattc
 atttttaatt ataatttaat ttataggaaa acagtttaat tttgttaacc ttatatcctg
 taccttatta taatcactag tttcagaaat tatttttggt tattttggat tttctaCata
 gacaacactg tcatttgtga aaaagagcag cctatttcat tcttcacaag caatatatcc
 S
 cttttctcat attactgcat taagactccc agtaaaatgt tgagaagggg tgctgataga
 gaacatcctt gccttggtct cgacgttagc agggtaattt ctagtttctc accatgttgg
 ttatgatggt agctctacat tttttaataa tattcattat caagttaagg aaattctcct
 gtattattga gctggttttt accatgaaag ggtattcgat tttctcaagt gctttccttt
 ctattgatag ggtcatgcta tttttcttct tcatatatag gatggattgc attactttct
 ttttatttgt tCATTTATTT Attttctttt caacttattt taggttgaaa gggcacatgt
 aacaggtttg ttacatgggt aaattgtgtg tcatgggggc tttgtgtaca gataattttg
 tcacccaggt gatcggccta atacctgata gatagttttt caatcctcac catcctccca
 ctctcaacgg tggactggat aaagaaaatg tggtacatat acaccatgga atactataca
 gttgttacaa aatgagatca tgtcctttgc agcaacgtag atcgagttgg aggtcataat
 gctaagtgaa ttaatgcagg aatagaaact aaataaatac ttcatgctct cacttataag
 tgggagctaa acagtaagta cacagggaca caaagaaggg aacgatagac actggggtct
 actCTCTTAA GAAAAGGCAA GATGACATTC CAGTGTCCAC CTGGCTAGAA CAGAAAAAGG
 AAAAAAAAAA AAAAAAGAAC ATTGACTCAT TCCCAGGGCA TCTTCCTACA CTTAGATTCT
 GAAAGATAGT ATTCTTTCCA TCACTCCTTT CCTTTCTACT CTTAGCACAA ATATCCTTAA
 ACAGAATTTT AGA

  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:  rs7276240 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
21NW_927384.12420184724716724plusGalt_assembly_1CeleraCeleraview2160
21NW_001838708.276812224988222minusGalt_assembly_8HuRefHuRefview2160
21NT_011512.102518039338440393plusGref_assemblyreferencereferenceview2160

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512
dbSNP Blast Analysis
GenBank HTGS Finished:
AP000160.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss10976195HapMap-CEUEuropean 114IG 0.175 0.596 0.228 0.150 0.474 0.526
HapMap-HCBAsian 86IG 0.837 0.163 0.584 0.919 0.081
HapMap-JPTAsian 88IG 0.795 0.205 0.898 0.102
HapMap-YRISub-Saharan African 120IG 0.767 0.233 0.317 0.883 0.117

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.344+/-0.23227021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .