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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs216303          
refSNP ID: rs216303
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:T
Clinical Association:unknown
HGVS Names
NM_000552.3:c.2186+2664G>A
NT_009759.15:g.6013306C>T
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 ss78772643 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs216303 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
ss281825KWOK|OVLP-000621-224966fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt06/30/0010/25/0679Genomic97 %
ss282386KWOK|OVLP-000621-228215fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt06/30/0010/10/0385Genomic97 %
ss682427SC_JCM|AC006576.1_86512fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt07/27/0010/10/0387Genomicunknown
ss3222724YUSUKE|IMS-JST032808byFreqrev/TA/Gaaaaagaggattgcatgagagaggccaaagtcaaaggccagtaaaaagggcagaaccaga09/05/0110/10/03100Genomicunknown
ss15824132SC_SNP|NT_009759.15_6013306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt11/17/0311/22/03120Genomicunknown
ss19258622CSHL-HAPMAP|CSHL-HuDD-200402.chr12.NT_009759.15_6013306byFreqfwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt02/20/0410/26/06120Genomicunknown
ss19956799CSHL-HAPMAP|CSHL-HuFF-200402.chr12.NT_009759.15_6013306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt02/21/0403/04/04120Genomicunknown
ss20967145SSAHASNP|WGSA-200403-chr12.chr12.NT_009759.15_6013306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt03/19/0403/19/04121Genomicunknown
ss38946599ABI|hCV2401921fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt07/16/0507/16/05126Genomicunknown
ss78772643HGSV|Cor18507_SNV_20070510.chr12_6029306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt10/19/0710/20/07129Genomicunknown
ss82069202HGSV|Cor18555_SNV_20070510.chr12_6029306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt11/27/0712/02/07130Genomicunknown
ss82640468HGSV|Cor19240_SNV_20070510.chr12_6029306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt11/30/0712/03/07130Genomicunknown
ss84746059HGSV|Cor19129_SNV_20070510.chr12_6029306fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt12/06/0712/07/07130Genomicunknown
ss88936483BCMHGSC_JDW|JWB-0512178fwd/BC/Ttctggttctgccctttttactggcctttgactttggcctctctcatgcaatcctcttttt02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs216303|allelePos=398|totalLen=898|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 AGTCATACCA ACTTCCTATA GTCTAGCCTC TATCCTTACC ACTGAAACAC AGAGGCCACC
 ATGACCTTCT GATCCCCAAA TTCAACCGTC TATTCTCACT GTAATAAGGA GAGTTCAAGA
 ATCCCTGGGC TCTAGTCACT TGCTGGCTGA TTTAGGAAAG TGATAGTCTC TCTAAGCCTC
 AAATTCTTTA CTAAAAAAGC AAGTCATGCC TGCCCAACAG TGTTGTTTTA AGGTCCCAGA
 GAGAAACTCC TGGCAAACTA TAGCCAGACA ACTGTAGTAA AACAGCACTG GGCTAAGGCC
 AAGTCAGCAG TCCTGCAGAG GAGGTCCTTA CTCCCTTCTG CCCTTCATTT CCATGATATG
 GCACTGCTCT GGTTCTGCCC TTTTTACTGG CCTTTGA
 Y
 CTTTGGCCTC TCTCATGCAA TCCTCTTTTT CTTCCTCTTG CCCTCTGAAC ATTCCCCCAA
 GTTCTGACTC AGTCCTCTTT TCTGCCCTCT GGCCCACTCC CCTTAGGGAT CCTCGCTACT
 CTCATGGCTG AAACTGTCAC CTCCATGTAC GTCTTTCTCT CCACCCCAAC CTCTCACTCA
 CCTTCCAGAC CCATTTCAAG CTGTTGATTC CATTTGTTCA CCAAGATGGT AACTCAAAGT
 CATTAAGGCC AAAACCAAAG CCATCACTTG CCCTCTACCT CCAGAGGGCC CTCTTGCTGT
 TCTTGCGTCA CTGTCCTCAC AGGCATTCAA GTTCAGAACT CCAGGGCCAT CTGCAACAGC
 CCCTCCTCCT CTCAAACATC CCACTAGTCC ATCTGCTTTC CCAGCGTCTC TGGCTTCTGG
 CTTCCACTCT CCATTTCTAC TGCTATCGCT TGATCCAAGG CCTCGCTACC TTCTTATCGG
 TCAACGTCAA CATTTTCCTG

  GeneView back to top
GeneView via analysis of contig annotation: VWF von Willebrand factor
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_009759->NM_000552
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009759->NM_000552->NP_0005436013306reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs216303 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838050.15659616010735plusTalt_assembly_8HuRefHuRefview397
12NT_009759.1560133066029306plusCref_assemblyreferencereferenceview397
12NW_925295.159822437778661plusTalt_assembly_1CeleraCeleraview397

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009759 AC005846 AC005904
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss19258622CEPH 184AF 1.000
HapMap-CEUEuropean 120IG 0.233 0.767 0.317 0.117 0.883
HapMap-HCBAsian 90IG 0.022 0.511 0.467 0.100 0.278 0.722
HapMap-JPTAsian 86IG 0.116 0.395 0.488 0.655 0.314 0.686
HapMap-YRISub-Saharan African 120IG 0.117 0.883 0.655 0.058 0.942
ss3222724JBIC-allele 1486AF 0.236 0.765

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.289+/-0.24727021000

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .