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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs249521          
refSNP ID: rs249521
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:C/T
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 ss2392351 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs249521 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
ss322692KWOK|OVLP-000621-28218fwd/BC/Tcccttggcctgaagcagtgagcacatgagatgtgtgacaacgcttcagagaaaaacagag06/30/0010/10/0379Genomic99 %
ss509699SC_JCM|AC025447.3_78045rev/TA/Gctctgtttttctctgaagtgttgtcacacatctcatgtgctcactgcttcaggccagggt07/12/0010/10/0392Genomicunknown
ss919493KWOK|OVLP-000804-237225fwd/BC/Tcccttggcctgaagcagtgagcacatgagatgtgtgacaacgcttcagagaaaaacagag09/01/0010/10/0386Genomic99 %
ss2392351TSC-CSHL|TSC0432388byFreqfwd/BC/Tcccttggcctgaagcagtgagcacatgagatgtgtgacaacgcttcagagaaaaacagag10/20/0005/16/0488Genomic95 %
ss3723547SC_JCM|AC025447.4_77216rev/TA/Gctctgtttttctctgaagtgttgtcacacatctcatgtgctcactgcttcaggccaaggg09/25/0110/10/03100Genomicunknown
ss4441141LEE|e1923535fwd/BC/Tcccttggcctgaagcagtgagcacatgagatgtgtgacaacgcttcagagaaaaacagag04/26/0210/10/03106cDNAunknown
ss6479516WI_SSAHASNP|NT_006679.11_793274rev/TA/Gctctgtttttctctgaagcgttgtcacacatctcatgtgctcactgcttcaggccaaggg02/12/0310/10/03111Genomicunknown
ss22306189SSAHASNP|WGSA-200403-chr5.chr5.NT_006576.14_17512619rev/TA/Gctctgtttttctctgaagcgttgtcacacatctcatgtgctcactgcttcaggccaaggg03/21/0403/21/04121Genomicunknown
ss82727194HGSV|Cor19240_SNV_20070510.chr5_35096270rev/TA/Gctctgtttttctctgaagcgttgtcacacatctcatgtgctcactgcttcaggccaaggg11/30/0712/03/07130Genomicunknown
ss1089540941000GENOMES|CEU.trio.12.15.2008_1243093_chr5_35096270rev/TA/Gctctgtttttctctgaagcgttgtcacacatctcatgtgctcactgcttcaggccaaggg12/15/0812/16/08130Genomicunknown
ss1116851981000GENOMES|NA19240_2008_12_16_1113709_chr5_35096270rev/TA/Gctctgtttttctctgaagcgttgtcacacatctcatgtgctcactgcttcaggccaaggg12/16/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs249521|allelePos=921|totalLen=1080|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 AAGTGTCCAC CACTGCCCAT CATTTGCAGA AAGACTTGGC CCTGCCTTTA GCAACTTCCC
 TATCTCCTTA GAGTAGACAA GAAAGAAACA GATTTGTGCA CATTTTACAA AGTGCCTTCC
 TCTATTTTTT TTTAAAGTTT TCATTTTGCA AGGAAAAATG TATTGATTAG AAAGTAACAT
 TTGCCTTATA GGGATtatat atatatatag atatagatat agatatgtat GAATGGAGAG
 ATGAGAAGAA GCCAGAAAGG GCACAACAAA ATGGTCTAAG GGCCAACCAG CAATGTTCAG
 TGAATGTTTA CGTATTGTTT AATTGAATCA ACACAGAGCT GTTGTGAATA GTGTGACTTA
 CTTTGCCTGA TAAGAAATTG AGGCTGGCTG TGATTTGGGG ATAAACCTGC CACCCTGTGA
 TTTGAGACTC TCCATACCAA AACTTATTGA TACATTTTTG AATGTCATTG GCTTACATGC
 CTAAACCTGA AGAGAACAAT GCATGCACAT TGGAACTTTG TACACAAACA GAAAAATATA
 AATGACTTTG AATTACCATC CCAAGCATTG CTAACGTAGA TGTGCCATTG ACGAAAGTCT
 CATGTGTTCT TGAGTGAACA AATTTCCTTT TCTTCCTTTT TGGCTCAAGC ACAATAATGC
 TGTCACTGAG ACAGTGACTG AGCACTCAAT GTCCAAGACT AAATCACATC ACCACGACTA
 AGTAGGCACT ATGTCCTGGG ATGAGTCTTT TAAACTCTGG CCATCAGGTT CCTTACTTGT
 TAAATAAGTA GGTTGGCCTA AAAGGTTTCT AAGACCTCTC ATGATCTAGG TAAAATCCAG
 GGTTTCAGGT CAGTGTCCCT GGTGCAGTGC AAGAAAGCCT TGCTGACACA CCCTTGGCCT
 GAAGCAGTGA GCACATGAGA
 Y
 TGTGTGACAA CGCTTCAGAG AAAAACAGAG ATCTGTTCCT CCAACTCAGA TTGATTTAAC
 ATCCTTGCTT CTCCTTTTCC TTCCTGGCTT TACATATTTG TAGGGTTTTT ACTCCTTCTC
 CAGAGCCTAC TATTTTCCTA AGAGTTAGTA GCAACCATA

  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:  rs249521 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_922596.165321034942696minusAalt_assembly_1CeleraCeleraview920
5NW_001838932.264788635009404plusCalt_assembly_8HuRefHuRefview920
5NT_006576.153503327035096270minusAref_assemblyreferencereferenceview920

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006576 AC010368 AC025447.3 Hs.35156
dbSNP Blast Analysis
UniGene Cluster ID
368587

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss2392351CEPH 184AF 0.050 0.950
HapMap-CEUEuropean 120IG 0.017 0.250 0.733 1.000 0.142 0.858
HapMap-HCBAsian 90IG 0.067 0.333 0.600 0.655 0.233 0.767
HapMap-JPTAsian 90IG 0.089 0.444 0.467 0.311 0.689
HapMap-YRISub-Saharan African 120IG 0.350 0.450 0.200 0.584 0.575 0.425

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.436+/-0.16727021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .