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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2411060          
refSNP ID: rs2411060
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_145032.2:c.496-2232T>A
NT_007933.14:g.27794372A>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 ss11905263 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2411060 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
ss3377595TSC-CSHL|TSC1655298fwd/TA/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt09/20/0110/10/03100Genomicunknown
ss6207792SC_JCM|NT_007933.10_27793424fwd/TA/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt01/10/0310/10/03111Genomicunknown
ss11905263WI_SSAHASNP|chr7.NT_007933.12_27793514fwd/TA/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt07/04/0310/10/03116Genomicunknown
ss20318141CSHL-HAPMAP|CSHL-HuFF-200402.chr7.NT_007933.13_27793514fwd/TA/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt02/21/0403/04/04120Genomicunknown
ss22566204SSAHASNP|WGSA-200403-chr7.chr7.NT_007933.13_27793514fwd/TA/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt03/21/0403/21/04121Genomicunknown
ss77498879HGSV|Cor12156_SNV_20070510.chr7_102204747fwd/A/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt10/09/0710/13/07129Genomicunknown
ss83720106HGSV|Cor19240_SNV_20070510.chr7_102204747fwd/A/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt11/30/0712/05/07130Genomicunknown
ss85535109HGSV|Cor18517_SNV_20070510.chr7_102204747fwd/A/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt12/06/0712/09/07130Genomicunknown
ss93737945BCMHGSC_JDW|JWB-2351358fwd/A/Taacagaaataataataaattcattttttttaaaaaatgaatgaaaagaaaaaaagagttt02/26/0803/05/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2411060|allelePos=1794|totalLen=2171|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=130
 TTTCTGGGAA AGAGCAATAA ACACATTTTg gcttctactt ctggaaatgt ggtagaccaa
 aaaatcagga aatcctgctg gtacaaaaca tcagtaaatg ctaaaagaaa cattttttaa
 aaacataatt cagttgtcaa gaaagtaaaa caaatatgca aggacccaat ccttataaac
 ccagactgat aataaggtgc ttcatgctat agttgcttgg gagggaggaa caataaagat
 ggttgctgct tttcataata aaatgggttc agattttact ggccatgcag agacataaga
 aagtcaccag gcctgtacaa agctggtaca gtcatgctct gcataatgat atttcagtca
 atgatgggat gcatgtatga cagcagtccc ataagattat aatggagctg aaaaatttct
 attgtctagt gacatcatag ccattgtaat atcatagcac aagtacttaa tttttaaata
 aatttagtgt aacctaagtg tacactgttt atagtgtagt actctatctg tagttgtgta
 cagtaatatc ctaggccttc acattcactc aacactcact cactgactca ttcagagcaa
 cttctagtcc tccattgata agtgccctat ataggtgtgc caattttaat ttttttacca
 tatttttact gtacattttc tatgtttaaa tatatactta tcattgtgct acaattacct
 acaatattta gtacagtaac atgctgtaca ggcctgtagt ctaggagtaa taggctatac
 catacaaccc aagtgtgtac tggattatac catctaggtt tgtgtagcac tctatgatgt
 tcacacaatg acaaaaatca cctaatgaca cacttctcaa aaggtatccc catcattaag
 caatgcgtga ctgtaattga aactgagTCA GAAAAAAAAA AGAAAAGAGA GAGAGAGAGA
 AATCCAGGAT TATGAAACAG AAAGAAAtca cgcctgtaat cccagcactt tggaaggtcg
 aggcaggtgg attgcttgag gtcaggagtt caagaccagc ctggccaaca tggtgaaacc
 ctgtctctac taaaaataca aaaattattg cacacgtctg taatcccagc tactcgggag
 gctgaggcag gagaactgct tgaacccagg aggtggaggt tgcagtgagc tgagattgga
 ccactgcact ccagcctggg caatagagca agactctgtc caaaaaGggg aagggaaagg
 aaagggagga gaggggaggg gaggggaggg gaggggaggg aaaagaaaag aaaagaaaag
 gaaagaaaag aaaaaagaaa agaaaagaaa agaaaTCAAC CATACTGGCA AAAGAAAAAC
 TAAGGTATCT AGCCTGGTAT CAAAAAGATC TCTCgccagg cacagtggct cacacctata
 attccagcac tttaggaggc tgaggtggga ggcttgcttg agcccaggag ttcaagacta
 gcctgggcaa catagtgaaa ccccatttca actaaaaatt taaaaattag tcatatatgg
 tggtgcacac ctatagtcct agctactcta gaggctgaga cgggagaatt gtttgagcct
 gggaggctgc ggctgcagta agccatggtc atgcgactgc actccagcct gggcaacaga
 gcaagactct gtctcaaaaa ataaaataaa ataaaatCTC TCAAAGAATT TGTAACCATA
 TTGACCATTT TTGGTTTGGG TTAAACAGaa ataataataa attcattttt ttt
 W
 aaaaaatGAA TGAAAAGAAA AAAAGAGTTT GTAACCAAAG GCCAGCGATT ATGTGTGTTG
 GGATTTAAAT TTCATCATGC CTGGGATCCA ATTTGAATTT GTTACCTTTG TAAATGGATT
 TGATATatta atgtgcaaag aggttccact ggtaataact ctgggacatt tggcagaaat
 aaatatcatt ctctctaaag agacagacac agtcaagcca ggccttacag gatacccatg
 gattaagccc tccaaaaaca agctcccaat caaaaactgc aaaacacacg aggaaaAGGA
 AGTCCAACAA GATTCAAAAG AAACCTTTAA AGTGATGAAG ACATAAAAAG AAAAATAAAA
 CTCTTGAGAC AAATGTT

  GeneView back to top
GeneView via analysis of contig annotation: FBXL13 F-box and leucine-rich repeat protein 13
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_007933->NM_145032
svfunction
HuRefNW_001839071->NM_145032
svfunction
CeleraNW_923640->NM_145032
svfunction
CRA_TCAGchr7v2NT_079596->NM_145032
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007933->NM_145032->NP_65946927794372reverseintron
HuRefNW_001839071->NM_145032->NP_65946928680712forwardintron
CeleraNW_923640->NM_145032->NP_659469177402reverseintron
CRA_TCAGchr7v2NT_079596->NM_145032->NP_6594692006730reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2411060 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
7NW_001839071.22868071296973802minusAalt_assembly_8HuRefHuRefview1793
7NW_923640.117740297418651plusTalt_assembly_1CeleraCeleraview1793
7NT_079596.22006730101971162plusAalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view1793
7NT_007933.1427794372102398032plusAref_assemblyreferencereferenceview1793

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933.10
dbSNP Blast Analysis
GenBank HTGS Finished:
AC073127.11 NC_000007.12

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .