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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs10834966          
refSNP ID: rs10834966
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:A
Clinical Association:unknown
HGVS Names
NM_005387.4:c.1781+3036T>G
NM_016320.3:c.1730+3036T>G
NM_139131.2:c.1730+3036T>G
NM_139132.2:c.1730+3036T>G
NT_009237.17:g.2536826A>C
Links

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 ss15492003 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10834966 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
ss15492003SC_SNP|NT_009237.16_2513525byFreqfwd/TA/Caaaaatgtgaactaccttagggttttgagggaaaagggaaatgatctgacttatgcttca11/14/0310/25/06120Genomicunknown
ss18680865SC_SNP|SC-CHR9-12_NA17119-200402.chr11.NT_009237.16_2513525fwd/TA/Caaaaatgtgaactaccttagggttttgagggaaaagggaaatgatctgacttatgcttca02/20/0403/04/04120Genomicunknown
ss18914544SC_SNP|SC-CHR9-12_NA07340-200402.chr11.NT_009237.16_2513525fwd/TA/Caaaaatgtgaactaccttagggttttgagggaaaagggaaatgatctgacttatgcttca02/20/0403/04/04120Genomicunknown
ss20797477SSAHASNP|WGSA-200403-chr11.chr11.NT_009237.16_2513525fwd/TA/Caaaaatgtgaactaccttagggttttgagggaaaagggaaatgatctgacttatgcttca03/19/0403/19/04121Genomicunknown
ss39898495ABI|hCV1336131fwd/TA/Caaaaatgtgaactaccttagggttttgagggaaaagggaaatgatctgacttatgcttca07/16/0507/16/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10834966|allelePos=960|totalLen=2433|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 AAAGTTAATC CTACAAGCAA GAAAGTTACC AAGCACTACT GAGGCATGTG GAAAGGACTT
 ATGAGCCAAT CTGAAAGGGC TCCTTGCTGC CCAAATATGA GACAATTTGA ACATCACAGA
 AAACAATAAC TGCATTGGAC TGAAACATAG CAACTGGGGT TGGGGGTAGA AAGAGAGAGT
 AAATAAAGGT GGCATGGTGG GTTTCGCTGT AATTTCAGCA CTTCAGGAGG CCAAGGTGGG
 GGGATTGCTT GAGCCCAGGA GTTCAAGACA AGCCTGAGTA ACACAGTGAA ACACCATCTC
 TACTATAAAG TAGGAACACG ACTCTACAGA AAATTTTTTA AATATCAGCC AGGGACAATG
 GCGTGCACTT ATAGTCCCAG CTACTTAGGA AACTGAGGTG GCAGGATCAC TTGAAGCTAG
 GAGTTTGAGA CCAGCCTGGG CAACACAGCA AGATCCTGTC TCTACAAAAT AAAAAAAATT
 AGCCAGGTGT GGTGGCACGC ACCTGTAGTC CCAGCTACTC GGGAGGCCAA GTCAGAATAA
 TCCCGAGCCC AGGAATTCAA GGGTGCAGTG AGCTATGACA GCGCCACCGC ACTCCAGCCT
 GGGTGACAGA GTAAGACCCC GTCTCAAAAA CAAAAAAATA AACCAAAAAT AGTGTCGCAA
 GAGTAGTCTT CATTGATGTG ACATGTGAGT ACAGAGCGTC AGGGTTAACT ATATGGATAT
 ATGAGGAGAA GTGTTTCAAA GGGAACAATT GGGGCAAAGG CCCAAATAAA TAGCATGCCT
 ATCGTGTCCT AACAGGAGCA AGGAACAGTA AGTTTAGAGT GGAGTAAGCA ATGGAGAGAA
 TCGTAGATGT GTTCAGAGCA GTAATGGGAA ATCCTACCTT TGAGGACTTT ATATGCCAAT
 GTAAGCACTT TGGTCCTTAC TCTGAGTAAA AAAATGTGAA CTACCTTAGG GTTTTGAGG
 M
 GAAAAGGGAA ATGATCTGAC TTATGCTTCA AAATGACCAC TGTGATAGCA ATGTTTAGAA
 TCAGATGCAA AAGAGTAAGA GTAAAAACAG AAGAGTGGGG CTGGGTGCGG CGGCTCACGC
 CTGTAATCCC AGCACTTTGG AAGGCCGAGG CAGGCAGATC TTGAGGTCAG GAGATCAAGA
 CCATCCTGGC TAACACAGTG AAACCCTGTC TCTACTAAAA AAAATACAAA AAAATTAGCT
 GGGCGTGGTG GTGGGCGCCT GTAGTCCCAG CTACTTGGGA GTCTGAAGCA GGAGAGTGGA
 GTGAACCCAG GAGGCAGAGC TTGCAGTGAG CCGAGATGGG GCCACTGCAC TCCAGCCTGG
 GCAACACAGC AAGACTCCAT CTCAAAATAA ATAAATAAAT AAAAATAAAA ACAATAAGAA
 CTGAAGAGTA TATTGTGGTA ATTCAGGCAA GAGATAGTGG TGGCTTGCAC TAGGGTAATA
 GCAATGAATG TGGTGAGAAC TATACAGATT CTAAGTAATT TACAGGGTAG AACCAAGAGG
 ATTTGCTGAT AACTTAGATG AGGAATGTGT GACAAAGTCA AGGAAGATTC CAAAATTTCT
 GACCGGAGCA ACTAGAATGA TAGTAATGCA ATCATCTGAG ACAGGTTTTG GGTAGAACAG
 GTTTGAGAAA GAAAACATGG ACATGTTAAT TTTAAATCAA TTTCTTTTAG ACATCGAAGT
 GAAGATGTAG AGTAGGGTAA GATACAAGAA TCTTTAGTTT GGTAAAGAGG TCTGGGTTGG
 AGATAAAAAT TTGGGAATCA TCAGACTACA GATGATATTT AAAGCCATGA GAATAAATTG
 AAGCACTTTG GAAATAAGCA TAGATAAAAT GTGATCAACA ACTGAGCCAA GGGCATTCTA
 ATTTACAGAC GGTGGAATGA AGAGGAACCA GTAAAGGGGA CTGAGAAGCA GCAACCAGCA
 AGGCAGGAAG AAAACTAGGA AATTGTGGGG TCCTGGAAGA CAATTATGAA AGTGAATCAA
 GGAGGAGGGA CAAGATCAAC TGCGTAAAAT GCTTCTGTTA CATTAAGACG GTTGATAGGT
 AGCTGGGCGT GGTAGCTCAT GCCTGTAATC CTAACACCTT GGGAGGCTGA GGCTTGAGCC
 CAGGAGTTCG AGACCACCGT GGGCAACACA GAAAGACCCT GTATCTCCAA AAAAAAAAAA
 AAAAAAAAAA AAATTACTGG GCATGGTGGT GTGGGCCTGT GGTCTCAGCT ACTTGGGAAC
 TGAGGTGGGA GGATCACCTG AGCCCAGGGG TCGAAGGTGC AGTGATGTAT GATTGCACCA
 CTGCACTCCA GCCTGGGCAA TGGCATAAGA CTCTTGCCTC AAAAAAAAAA AAAAAAAAAA
 AAAAAAGGAT GACGTTTGAC AGCAACACCA CAGAAGTGAG GCCAAGGAGG TCAGATGGTA
 TTAACAACAA AATGTATGTC CTCCCACTCT AAT

  GeneView back to top
GeneView via analysis of contig annotation: NUP98 nucleoporin 98kDa
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_009237->NM_005387
function
referenceNT_009237->NM_016320
function
referenceNT_009237->NM_139131
function
referenceNT_009237->NM_139132
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009237->NM_005387->NP_0053782536826reverseintron
referenceNT_009237->NM_016320->NP_0574042536826reverseintron
referenceNT_009237->NM_139131->NP_6243572536826reverseintron
referenceNT_009237->NM_139132->NP_6243582536826reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs10834966 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
11NW_001838018.25271963483488minusTalt_assembly_8HuRefHuRefview959
11NT_009237.1725368263706161plusAref_assemblyreferencereferenceview959
11NW_924962.133340343754278plusAalt_assembly_1CeleraCeleraview959

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009237
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss15492003HapMap-CEUEuropean 120IG 0.550 0.317 0.133 0.100 0.708 0.292
HapMap-HCBAsian 88IG 0.818 0.182 0.527 0.909 0.091
HapMap-JPTAsian 88IG 0.795 0.182 0.023 0.527 0.886 0.114
HapMap-YRISub-Saharan African 120IG 0.867 0.133 0.584 0.933 0.067

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.250+/-0.25027021000

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .