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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4910810          
refSNP ID: rs4910810
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_005387.4:c.-29+4669A>G
NM_016320.3:c.-29+4669A>G
NM_139131.2:c.-29+4669A>G
NM_139132.2:c.-29+4669A>G
NT_009237.17:g.2601202T>C
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 ss11174404 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4910810 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
ss6787246WI_SSAHASNP|NT_028310.8_192589fwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt02/12/0310/10/03111Genomicunknown
ss11174404WI_SSAHASNP|chr11.NT_028310.10_2574370byFreqfwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt07/03/0310/25/06117Genomicunknown
ss23537856PERLEGEN|afd4647766byFreqfwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt08/10/0409/13/04123Genomicunknown
ss66166333AFFY|SNP_A-2180738byFreqfwd/BC/Tcagaagtgtaaaggtcattcaaagtacaacac10/27/0603/31/08127Genomicunknown
ss67768353ILLUMINA|HumanHap650Yv1.0_rs4910810fwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt11/14/0611/14/06127Genomicunknown
ss71418639ILLUMINA|HumanHap650Yv3.0_rs4910810fwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt04/23/0704/23/07127Genomicunknown
ss75408375ILLUMINA|ILMN_Human_1M_rs4910810fwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt08/28/0708/29/07129Genomicunknown
ss76214836AFFY|AFFY_6_1M_SNP_A-2180738fwd/BC/Tcagaagtgtaaaggtcattcaaagtacaacac08/28/0708/30/07130Genomicunknown
ss88436688BCMHGSC_JDW|JWB-0365941fwd/BC/Tatgttataaaatcacagaagtgtaaaggtcattcaaagtacaacacagaccaatggtttt02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4910810|allelePos=2466|totalLen=3785|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 AATATTTTTT AGCCATGAAA CCCGACATAT AAAACAGACA TAAGCAGAAG CTGCTCTGGC
 TGAAGTGAAG AGGGAGTAGG TACAGTAGAA CCCCACCAGC TCTGCCCTAT GAAGCAGCTT
 AGGGCTCTAT GAACCAATGT GAAATATTGT TCTAGATTag tggttctcaa agtgtgaccc
 aaagacccct aaaagtcccc aacacttctt ccaggggttc aatgaaatca aaaccatttt
 cacaataaaa ctaagacact ttgccctttt tctttactgt tctgacctct gtgctgatgt
 gcaaaatcaa tggtgtgcaa aaatgctggg aactcagcat gaatcaaagc aacaacccca
 aatggtgctg aactaacact cactgaattc ttcactgtca cccatttaca atataaaaaa
 ttccactttc acttaaaagg gtccttaatg aagcagcaaa aattattagt tgtattattt
 ctcaacacta cagcacaatt ctttttaatt cagtattggg aaatactcaa aaacttctgc
 ttactgaaat acaaaggata tcaaggggca aaccacctgt aattactttt gaaagctaaa
 tgtagttgtt tttctcatgg aacaccattt taattttttt ttttttttga gacagagtct
 ggctctgttg cccaggctgg agtgaagtga cgcaatctcg gctgactgca agctctgcct
 cccaggttca cgacattctc ctgcgtcagc cttccgagta actgggatta caggcgcccg
 ccaccacgcc cagctaattt tttgtatttt tagtagagac gggttttcac cgtgttagcc
 aggatggtct cgatctcctg accttgtgat ccgcccccct cagcctccca aagtgctggg
 attacaggcg tgagccactg cgccccgccc accattttaa tttcaaagaa tgattgacaa
 actatggtta ttaagatttg gTACTggctg ggcatggtgg ctcacacctg taatcctagc
 agtttgggag gccgaggcag gtggatcact tgaagtcagc agttcaaaac cagcctggcc
 aacatggtga aacctcatct ctactaaaaa tacaaaaaat tagccaggca tggtggtgga
 cgcctgtaat cccagctact tgggaggcgg agacaggaga atcagtggaa cccagaaggc
 ggaggttgca gtgagttgag atcccaccat tgtactccag cctgggggaa agaccgagac
 ctcgtctcaa aaaaaaaaaa aaaaaaaaaa aaagaaaggc tgggcatggt ggctcatgcc
 tataatccca gcatttcggg agaccgaggc agacagatca cgaggtcagg agttgaagac
 cagcctgacc aacatgatga aaccctgtct ctgctaaaaa tacaaaaatt agccatgtgt
 ggtggcacct gcctgtaatc ccagctactc aggaggctga ggcaggagaa ttgcttgaac
 ccaggaggcg aggttacagt gagccgagat cacgacactg cactccagcc taggcgacag
 agtgagacta catctaaaaa aaaaaaaaaa aaaaTTTTGA TACAAAAATT ACAACTACAA
 AAACATGCAT TCggctgggc gcagcggctc atgcctgtaa tcccaggact ttgggaggcg
 gaggtgagcg gatcacgagg tcaggagatc gagaccttcc tggctaacac ggtgaaaccc
 catctctact aaaaatacaa aaaattagcc gggcatggtg gcacgcccct gtattcccag
 ctactcggga ggatgaggca ggagaatggc gtgaacccgg gaagtggagc ttgcaataag
 ccgagatcgt gccactgcac tccagcccag gtgacagagt gaaactccat ctcaaaaaaa
 aaaaaaaaaa aaaaaaaaaa aaaacatgta ttcaccacta tcaggtcata agcttctcaa
 ttcttaaaaa gacttatctg atgagatggg tggaaacaga aacaactgta taattaaatt
 tgtcaacatc tggaatatct gggccaggcc tatggggctc atgcctgtaa tgccagctct
 ttaggaggcc gagacgggaa gatcacttga tgtcaggagt tccagaccag ccatggtcaa
 catgttgaaa ccccgtctct acaaaaaata caaaaattag ccagatgtgg tggtacacac
 ctgtagtccc agctactcag gaggctgagg catgagaatc acctgaaccc ggaatgcaga
 ggttacagtg agccaagatt gtgccacaac actccagcct gggtgacaaa gcaagactct
 gtctcaaaaa caaagaaaca aacaaacaaa aaaacaacaa aaaaagaaga tctgcataac
 tcagtaaatc aataatttca aaatcaacat gcatcatgtt ataaaatcac agaagtgtaa
 aggtc
 Y
 attcaaagta caacacagac caatggtttt taatacaaca gaatacaaaa gttcaatgac
 acagtttcag attccatact gtaatgaacc tttaaaaagg tttgaggccg ggcacggtgg
 ctcacgtctg aaatcccagc actttgggag gccaaggcag gcggatcact tgaggccagg
 agttcaaacc caacatggcg aaaccccgtc tctactaaaa atacaaaaaa ttagcccagc
 gtggtgatgt gcacctgtag tcccagcaac tcaggaggct gaggcaggag aattgcttga
 acctgggagg cggaggttgg agtacgctga gatagcgcca ctgcactccg acttgggcga
 cagagcacga ctccgtctca aaaaaacaaa caaataaaaa ggtttgactg tagtgtcaaa
 gagcagttag aattatctga aaaggccatt aaaatactcc tctcttttcc aactatgtat
 ctgtatgagg ctagattttc ttcacatact tcaaacaaaa caacataATA TATGTCAGAA
 TGCAAAGACT GGTACATTTA GAGGTCttct ttttatgata tggagtcttg ctctgtcacc
 caggatgaag cacagtggtg caatctgcgc tcactgcaac ctctgcctcc tgggttcaag
 cgattctctg cctcagcctc ccagtagctg ggactacagg tgcgtgtcac tgtgcccaac
 taatttttct atttttagta gattcagggt ttcaccatat tagccaggat ggtctcaaac
 tcctaacctt gtgatccacc cgcttcagcc tcccaaagtg ctggattaca ggtgtgagcc
 accacacccg gccAGCTACC ACTATATTTT TAAGAATTTT TCTTTCCTTA CTAAAAAAAA
 CTGCAAGTAT TTCCCATTAC ACTGAATTAA GTACAAATTC CTCAATGTGG TAATTATggc
 tgggcatggt ggctcacgcc tgtaatccca gcactttggg aggccaaagc gggtggattg
 cttgaggtca cgagttccag atcagcctgg ccaacatggt gaaagcctgt ctctactaaa
 aatacaaaat tagctgggtg tggtggcacg cacctgtaat ccagctactc gggaggctga
 ggcaagagaa ttgcttgaac ccacgaggcg gaggttgcgg tgagccaaga tcacatcatt
 gcactccagc cggggcaaca agagcgaaac tctgtctcaa aaaataaata aataaataaa
 taCATGTGAA ATATTTTCAC TAAAGTAGTA GTCTCAATCA AGGGCAATTC TGACAATTT

  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
svfunction
referenceNT_009237->NM_016320
svfunction
referenceNT_009237->NM_139131
svfunction
referenceNT_009237->NM_139132
svfunction
HuRefNW_001838018->NM_005387
svfunction
HuRefNW_001838018->NM_016320
svfunction
HuRefNW_001838018->NM_139131
svfunction
HuRefNW_001838018->NM_139132
svfunction
CeleraNW_924962->NM_005387
svfunction
CeleraNW_924962->NM_016320
svfunction
CeleraNW_924962->NM_139131
svfunction
CeleraNW_924962->NM_139132
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_009237->NM_005387->NP_0053782601202reverseintron
referenceNT_009237->NM_016320->NP_0574042601202reverseintron
referenceNT_009237->NM_139131->NP_6243572601202reverseintron
referenceNT_009237->NM_139132->NP_6243582601202reverseintron
HuRefNW_001838018->NM_005387->NP_005378462892forwardintron
HuRefNW_001838018->NM_016320->NP_057404462892forwardintron
HuRefNW_001838018->NM_139131->NP_624357462892forwardintron
HuRefNW_001838018->NM_139132->NP_624358462892forwardintron
CeleraNW_924962->NM_005387->NP_0053783398788reverseintron
CeleraNW_924962->NM_016320->NP_0574043398788reverseintron
CeleraNW_924962->NM_139131->NP_6243573398788reverseintron
CeleraNW_924962->NM_139132->NP_6243583398788reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4910810 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_001838018.24628923547792minusAalt_assembly_8HuRefHuRefview2465
11NT_009237.1726012023770537plusTref_assemblyreferencereferenceview2465
11NW_924962.133987883819032plusTalt_assembly_1CeleraCeleraview2465

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_028310
dbSNP Blast Analysis
GenBank HTGS Finished:
AC090587.10 NC_000011.8

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss11174404HapMap-CEUEuropean 120IG 0.050 0.950 1.000 0.025 0.975
HapMap-HCBAsian 90IG 0.022 0.978 1.000 0.011 0.989
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 0.050 0.283 0.667 0.527 0.192 0.808
ss23537856AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 44IG 0.227 0.773 0.584 0.114 0.886
AFD_CHN_PANELAsian 48IG 1.000 1.000
ss66166333HapMap-CEUEuropean 118GF 0.051 0.949 0.025 0.975
HapMap-HCBAsian 90GF 0.022 0.978 0.011 0.989
HapMap-JPTAsian 90GF 1.000 1.000
HapMap-YRISub-Saharan African 120GF 0.050 0.267 0.683 0.183 0.817
Concordant GenotypeTotal SampleC/CC/TT/T
ss11174404269333232
ss2353785671565
ss66166333268333232
RefSNP Genotype SummaryTotal IndividualC/CC/TT/T
rs4910810332338289
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
5246ss11174404C/TCSHL-HAPMAPHapMap-YRINA18859YOR012.03r23_ch11_YRI_affymetrix:genechip500k
5246ss66166333T/TCSHL-HAPMAPHapMap-YRINA18859YOR012.03chr11-HapMap-YRI
Genotype data submitted for341 samples from332 individualsIndividual with multiple genotypes submission:269

  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 .