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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11247933          
refSNP ID: rs11247933
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_173574.2:c.863G>T
NP_775845.2:p.R288L
NT_004610.18:g.9515515C>A
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 ss76885960 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11247933 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
ss15400378SC_SNP|NT_037485.3_802383fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag11/14/0311/22/03120Genomicunknown
ss18163278SC_SNP|SC-CHR1_NA17109-200402.chr1.NT_037485.3_802383fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag02/20/0403/04/04120Genomicunknown
ss41143067ABI|hCV30886099byFreqfwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag07/16/0511/03/06126Genomicunknown
ss65725260ILLUMINA|Human1-rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag10/10/0610/10/06127Genomicunknown
ss66603362ILLUMINA|HumanHap300v1.1_rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag11/09/0611/09/06127Genomicunknown
ss66929082ILLUMINA|HumanHap550v1.1_rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag11/14/0611/14/06127Genomicunknown
ss67085242ILLUMINA|HumanHap650Yv1.0_rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag11/14/0611/14/06127Genomicunknown
ss70392987ILLUMINA|HumanHap300v2.0_rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag04/18/0711/18/07127Genomicunknown
ss70527058ILLUMINA|HumanHap550v3.0__rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag04/20/0703/30/08130Genomicunknown
ss71057148ILLUMINA|HumanHap650Yv3.0_rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag04/23/0704/23/07127Genomicunknown
ss74806116AFFY|SNP_M-175467fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag08/09/0708/09/07128Genomicunknown
ss75434127ILLUMINA|ILMN_Human_1M_rs11247933fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag08/28/0708/29/07129Genomicunknown
ss76885960SI_EXO|NT_004610.18_9515516fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag09/20/0709/20/07129Genomicunknown
ss85094671KRIBB_YJKIM|KHS897264fwd/TA/Cacccgctttgctggagatgccatgccaccagctccaggcctggggagtcggttggggcag12/04/0712/08/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11247933|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 AAAAGCCTCA GTCTCCCCAT TTTAACCTAA ATGAGACGAT CTCATAGGCA GTCCTCTAGG
 GTGGCGAGGA CTTTGGTGGC CGTCTTATCC GATATCTCCA CCCAAATGAA CCATCCAAGG
 TCACTTGGCC CTAGAGGTTG CCCAGGAGTG CCTTCTAGCT TTGAGGTCCT TGCTTCTAGA
 AGCAGACTCG GGTGCATGGG GGGCCCTGAA GGATGTTGAG GGGAGAAGCA GAGCCCAGGA
 GGCAGATACC TTGAGATTGG AGAGCTGCCC AAAGCTCTTG CCACATATGT TGCACTCGTA
 CAGGATTTTG CCATTCTTCT TTTTCAGCGG GTAAGGCAAG GCTGCGGTGC CTGTCTGGGA
 ACTCAATGGG ACCCGCTTTG CTGGAGATGC CATGCCACCA
 M
 GCTCCAGGCC TGGGGAGTCG GTTGGGGCAG CTCCAGCACC TGGATTTCGG GCCTGGGAAG
 GCAGAGCTTG GCCAGAGGCT TGGAAGGCCC CTGGGTAGGG AAGCAGGGTC TCCCACCGAG
 CGCTGGGGTG CCCCAGCTCA TTGACCATCA TCAGCAGGCT AGGCATAGCC ATGGTGGGGT
 AGGAGGGGTC TTGGGGCAGC ATGAGGAGGT GGGGACATTG GTCAGAAGGT AGGGCCCCAT
 AGGTGAACAG GTGGGGTGGA GGCAGGAGAA GTGGGTATCC AGGGTAGAAG GCGTGGAGGA
 GAAATGGGAG CTCCTTGGAG ATGGAGTTGA CAGGGGGACA GGGGCAGAAA GCCAAGGGGC
 TGGGGCTCTT TCTGTTCTGC AGCGGTGGTG GGGAAGAGCT

  GeneView back to top
GeneView via analysis of contig annotation: ZNF683 zinc finger protein 683
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_004610->NM_173574
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004610->NM_173574->NP_7758459515516reverse981missenseTLeu [L]2288
contig referenceGArg [R]2288

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11247933 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838576.159002024945198plusCalt_assembly_8HuRefHuRefview300
1NW_921351.194837725087519plusCalt_assembly_1CeleraCeleraview300
1NT_004610.18951551626563761plusCref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_037485
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:
NM_173574.2 AL451139.40
UniGene Cluster ID
353208

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss41143067HapMap-CEUEuropean 120IG 0.150 0.450 0.400 1.000 0.375 0.625
HapMap-HCBAsian 90IG 0.089 0.400 0.511 1.000 0.289 0.711
HapMap-JPTAsian 88IG 0.068 0.295 0.636 0.403 0.216 0.784
HapMap-YRISub-Saharan African 118IG 0.017 0.237 0.746 1.000 0.136 0.864

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.380+/-0.21427021000

  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 .