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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs314440          
refSNP ID: rs314440
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:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_006515.2:c.117+1571T>G
NT_022517.17:g.4286781T>G
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 ss1872907 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs314440 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
ss403331KWOK|OVLP-000621-252315fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca06/30/0010/10/0379Genomic99 %
ss979085KWOK|OVLP-000804-569904fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca09/01/0010/10/0386Genomic99 %
ss983629KWOK|OVLP-000804-594762fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca09/01/0010/10/0386Genomic99 %
ss1872907KWOK|OVLP-000925-114378fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca10/06/0010/10/0387Genomic99 %
ss1873751KWOK|OVLP-000925-122216fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca10/06/0010/10/0387Genomic99 %
ss1874629KWOK|OVLP-000925-130091fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca10/06/0010/10/0387Genomic99 %
ss2518291SC_JCM|AC024636.3_132830fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca11/03/0010/10/03123Genomicunknown
ss11566136WI_SSAHASNP|chr3.NT_005927.15_4275626fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca07/03/0310/10/03116Genomicunknown
ss14235146BCM_SSAHASNP|chr3.NT_022517.16_4286781fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca11/05/0311/22/03119Genomicunknown
ss21990769SSAHASNP|WGSA-200403-chr3.chr3.NT_022517.16_4286781fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca03/20/0403/20/04121Genomicunknown
ss42011072ABI|hCV26851955fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca07/17/0507/17/05126Genomicunknown
ss91976295BCMHGSC_JDW|JWB-1548826fwd/BG/Tcaatagaaatgtttaggttaagataaagggttttttttgagacggagcttgactccatca02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs314440|allelePos=1075|totalLen=2187|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=129
 CAGTGGAACA GTACCTCTCT TCCGGAGTGC TTTGAAAATG GCAAGGAAAA TACACTTTCC
 GGTTTGCTGT AAGAACTCAG TAAATGTTTG CTTCTATTAA CTACCTCAAA GCCCTTTCTA
 CTCTCCtttt tctttttgag actgagtctc gctctgtcgc ccaggctgga gtgcactggc
 gcgatctcgg cccaccgcaa cctccacctc ccgggttcaa gcgattctcc tgcctcagcc
 tcccgagtag ctgggattac aggcatgggc caccacgccc ggctaatttt tgtattttta
 gtagagacag ggtttctcca tgttggtcag gctggtctcg aactcccaac ctcaggtgat
 ccgcccgcct cggcctccca aaatgctggg attacaggca tgagccacgc tcccagccTC
 TACTGACTTT CTTATCCCTC CGACCTTGGC CTGAGCGTTA CCCAAGGAAT AAGGAATGAC
 CAAAGATTTT GAAGTGGAAA GAGCGCTGGA CGTGGAAGTT GGAGAGTATG GTTCGGAGCT
 TAGACATCTT AGCTACTTCC CAGAGCCTGA GTTTCTTCAT CTGCAAAATG AAAATAATAA
 TTTAAAAATG CATAGCCCCT TTAACATCCA TTATCAACAA TGAACCCTAT CTGCCCTTTC
 TTTTTCCTAG GGGTTTTTGT GAGGATCAGA TAAGATAAGA GATTCAATAG CAGCTTTCAA
 AGATGTCAAG GAAAAGAATC AAACTCTAAA ATatttgaag agatttattc tgagccaaat
 atgagtgacc atggcctgtg acacagccct caggagatgc tgagaacatg tgtcccaggt
 ggttagggca cagcctggtt ttatacatgt ttgggagaga ggagacgtca atcaaataca
 tttaacatgt acatgggttt ggttcagaag gcggggcaac tcaaagtggt ggggggggct
 tccagactat aggtagattt taatttttct ggttaacaat ttttctggtt aacaattggt
 tgagtttgtc tgaagacctg ggatcaatag aaatgtttag gttaagataa aggg
 K
 ttttttttga gacggagctt gactccatca cccaggctag agtgtggtgg tgcgatcagc
 tcactgcaac ctccgcctcc caggttcaag cgattcttcc acctcagctt cccgagtagc
 tggaattaca ggcgcctaca accatgccca gctgattttt gtatttttag tagagacagg
 gttttaccat gttgcccagg ctggtctcaa actcctgacc tcaagtgatc cacccacctg
 ggcctcccaa agtgctggga ttacagacgt gagccaccgc acccggccat gtagagaccc
 aagttttaat tgtggggagg agactcccag ctgacttcag agggagcagg ttgtaaaatg
 tttcttatct aacttaaaaa ggtgcctcgg tcttagttga ttatctcctt gttgtggaaa
 gaaagaaaaa gagggggaaa ggggattctc tatagaatgt ggatttttcc cacaagagac
 aaccctccag ggcaatttca agatatggca aggaaatata tttggggtta aaatattttg
 atttcttccc ttatttgtta tttgatgtta tgccagagtc aggtagaaag cagaccatgc
 tatatagggt taaaattaaa actcctctga tgagacttta tggtttgtaa ggcatgactc
 cccaggtgcc ttgggtagga atttgggcaa gataagaaaa aatcagagtt tagtcctcAA
 AGAGTAGAAT AAGATATTAA TGTCAGAAAT TATTATTGTT CCCCAGACTA CCTTTGGCAA
 TTTATAGTTA ATAATACAGT TAGCTGGCCC AATATTAAAC AGTGGTCCCT GAAAACTTAG
 GACTAAGCAT TGCTGAGTTC CTGGTCAAAA ACACTGATTT AAAAAACCAC TGTTCTAGTC
 Cattcttaat tcaacaaata tttattgaga gctaaatata tgcaaggtgg tgggttgggc
 tgcaaagaat acaacaaaca gaaaaacgca ctctaccctc aaggtgttta caACTGTCAC
 GATTAGCTTC AATATTCCTG CCGTGCGTGT GTGTGTGCGT TTGAGACTAT TCTATAAATC
 TGTTTCCAAT CTTGAGTCAT ATTTTTCTTT GC

  GeneView back to top
GeneView via analysis of contig annotation: SETMAR SET domain and mariner transposase fusion gene
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_022517->NM_006515
svfunction
HuRefNW_001838876->NM_006515
svfunction
CeleraNW_921651->NM_006515
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_022517->NM_006515->NP_0065064286781forwardintron
HuRefNW_001838876->NM_006515->NP_0065066062171reverseintron
CeleraNW_921651->NM_006515->NP_0065064284734forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs314440 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
3NW_001838876.260621714280263minusCalt_assembly_8HuRefHuRefview1074
3NW_921651.142847344284734plusTalt_assembly_1CeleraCeleraview1074
3NT_022517.1742867814321781plusTref_assemblyreferencereferenceview1074

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517 AC024636.3 AC024898 AC024898.13 AC034191.4
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC023483.5 AC034191.6 NC_000003.10 AC024636.3 AC024898.13

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .