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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9626290          
refSNP ID: rs9626290
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
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
NM_007172.3:c.70-1394C>T
NM_153645.2:c.-205-782C>T
NT_011523.11:g.836793C>T
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 ss13391667 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9626290 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
ss13391667SC_SNP|NT_011522.4_832298fwd/BC/Tcccttgtcttgtatgcaataaatatcagcagcccagccattcagggccactgccggtctc10/23/0310/31/03119Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9626290|allelePos=1410|totalLen=1826|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=119
 CAGCAGAATA AAAATGGTCT CCCCTGAGGA AATCTGATCA TTTTTCCCTT ATAAACAGTA
 GGActgggca gcatagagag atcccggtct ctataaaaaa aatttttttt tttttttttt
 tttgagacag agtctcaccc tgttgcccag gctggagtgc ggtggcacaa cctcggctca
 ctgcaacttt tatctcccgg gttcaagtga ttctcctgcc tcagcctccc gagtagctgg
 gattacaggt gtacaccacc acacccagct aatttttgta tttttagtag agacagggat
 tcaccatgtt ggtcagactg gtctcaaact cctgacctca agtgatccac ccgccttggc
 ctcccaaagt gctgggatta caggcgagaa ccaccgcacc caacccccca aaaaattgtt
 ttaattagct gaacatggtg gcatgagcct atagtcacag caatttggga agctgaggcg
 ggaggtttgc ttgagcccag gagttcaagg ctgctgtgac ctgtgattgc accactgcac
 tccagcctgg gcaacagggt gagaccctgt ctaaaaaaca aagaataaaa CACAGCTGTA
 CTTATAGGAt gtgggcgaag gattacccag gtgccgaggc aagagactga aggcacaaac
 tgtttcagta taatacataa aatagttaga ataagaatag tcataataca aattagatac
 agagatgatc acgggcatta tcaatcatta gtataaacat tactagtcat tagcttttaa
 tattactctt tgttgtacta ctaatataac caaggaataa ccggcagata cagggtcagg
 tgctgaaggg acattgtgag aagtgaccta gaaggcaaga ggtgagccag ccctctgtca
 cgcccgcata agggccgctt gagggctcct tggtcaagtg gtaacgccag tgcctgggaa
 ggcacctgtt acttagtaga ccgtgaaagg gagtctcctt tacttggagg agtcagggaa
 cactctgctc caccaccttc ttgtgggaga ttggatattg tccaggcttg ccagtagtca
 tccagaggct tgaacccctc cctgtggtgc tgtgcttcag tggtcacact ccttgtccac
 attcatgctc ctcccgtagt cctggttcct ctttgaagtt cttagtagat agcagtagaa
 gaaatagtga aagttttaaa gtctttgatc tttctgataa gtgcatagaa gaaaatgctg
 acgtacgccg ccttccttct ctgcttcagc tacctaaaag ggaagggccc ctgtcccatg
 atcacgtgac ttgcttgacc ttgtcaatcc cctggacgac tcatcctcct caccctgctc
 ccttgtcttg tatgcaataa atatcagca
 Y
 gcccagccat tcagggccac tgccggtctc cgtgtcttgg tggtagtagt cccccaggcc
 cagctgtttt ctctttatct ctttgtcttg tgtctttatt tcttacaatc tctgtttccc
 ccttcgagga gaacacccgc aaagcccagt cccagccatt cagggccact gccggtctcc
 gtgtcttggt ggtagtagtc ccccaggccc agctgttttc tctttatctc tttgtcttgt
 gtctttattt cttacaatct ctgtttcccc cttcgaggag aacacccgca aagcccagta
 gggctggact ctacaGTCGT ACCTTATCAG CAGTGTGTTA CCCCCAGGCC AGATGACTAA
 GGAAATCTGT AACCACGACT TTCAGGTTAA CAGCATAGTG CTAAGTGAAA AAAGAA

  GeneView back to top
GeneView via analysis of contig annotation: NUP50 nucleoporin 50kDa
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_011523->NM_007172
svfunction
referenceNT_011523->NM_153645
svfunction
HuRefNW_001838751->NM_007172
svfunction
HuRefNW_001838751->NM_153645
svfunction
CeleraNW_927650->NM_007172
svfunction
CeleraNW_927650->NM_153645
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011523->NM_007172->NP_009103836793forwardintron
referenceNT_011523->NM_153645->NP_705931836793forwardintron
HuRefNW_001838751->NM_007172->NP_00910389463forwardintron
HuRefNW_001838751->NM_153645->NP_70593189463forwardintron
CeleraNW_927650->NM_007172->NP_0091032657169forwardintron
CeleraNW_927650->NM_153645->NP_7059312657169forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9626290 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
22NW_001838751.18946328511227plusCalt_assembly_8HuRefHuRefview1409
22NW_927650.1265716929477536plusCalt_assembly_1CeleraCeleraview1409
22NT_011523.1183679343944751plusCref_assemblyreferencereferenceview1409

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011522
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
NC_000022.9 Z82243.1 AC062010.2

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .