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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11244330          
refSNP ID: rs11244330
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_005085.2:c.6239+374C>T
NT_035014.4:g.885009C>T
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 ss15864030 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11244330 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
ss15864030SC_SNP|NT_035014.3_885009byFreqfwd/BC/Tggccatcaccaggtctcatgtgttgatccacctctgtgcttctgtgtaaaatttcatggc11/17/0310/26/06120Genomicunknown
ss19034137SC_SNP|SC-CHR9-12_NA07340-200402.chr9.NT_035014.3_885009fwd/BC/Tggccatcaccaggtctcatgtgttgatccacctctgtgcttctgtgtaaaatttcatggc02/20/0403/04/04120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11244330|allelePos=201|totalLen=920|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=120
 TCTGTAGCAA TATGGCAGGA GGTGCCAGGC CTCGCCTTCT TAAGAGGCGT GGTTCAAAGA
 GAAAAGAGCA CGCCTGCCAG TGAGCTGGGC CTGAGGGCAG CGCTGAGGAG ATGCTGCTCC
 TGACTTCCCT GGAGGTTTCT CAGAAGCTGC ATGCTAACCC CTGGGCTCTG GGCCATCACC
 AGGTCTCATG TGTTGATCCA
 Y
 CCTCTGTGCT TCTGTGTAAA ATTTCATGGC GTTAAAATTC AGTCTTAGCC AGGTGGGTGG
 TTCACGCCTA TAATCCCAGC ACTTTGGGAG GCTGAGGTGG GAGGATTGCT TGAGCCCAGG
 AGTCAAGACC AGCCTGGGCA ACAGAGTGAG ACCCCATCTC TACTAAAAAT TAAAAAAATT
 AGCCGTGCAT GCTGGCTTAT GCCTGTGGTC CCAGCTACTC CAGAAGCTGA GGCGGGAGGA
 TCACTTGAGC CTGGGAGGTT GAGGCTGCAG TGAGCCAAGA TGGTACCACT ACCGTCTAGC
 CTGGGTGACA GCCAGACCCT ATATCAAAAG AAAAAAATAT ATATACTGGC CAAGCACGGT
 GGCTCACACC TGTAATCCCA GCACTTTGGC AGGCCAAGGT GGGCAGATAT TTGAGGTCAG
 GAGTTCGAGA CCAGCCTGGC CAACATGGTG AAACCCCATC TCTACTAAAA ATATATATAT
 ATACATATAT AGATAAACAC ACAAGAATTA GCCAGGCGTG GTGGTGCATG CCTGTAATCC
 CAGCCACTGA GGCTGAGGCA AAAGAAGCAC TTGAGCCCGA GAGACAGAGG TTGCAGTGAG
 CTGAGATCAC GCCACTGCAC TCCAGCCTGG GCAATAGAGT GAGACTCTGT ATCAAAAAAA
 TAATAATAAA AAATCTGAGT CCTGACCTTT GCACACAGGC AGAGCAGCAG AGCCTGTGA

  GeneView back to top
GeneView via analysis of contig annotation: NUP214 nucleoporin 214kDa
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_035014->NM_005085
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_035014->NM_005085->NP_005076885009forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11244330 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
9NW_001839240.1891741103599038plusCalt_assembly_8HuRefHuRefview200
9NW_924573.118134984104647153plusCalt_assembly_1CeleraCeleraview200
9NT_035014.4885009133097890plusCref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035014
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL157938.22 AL158039.5

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
HWPC
T
ss15864030HapMap-CEUEuropean 120IG 0.950 0.050 1.000 0.975 0.025
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.014+/-0.08327021000

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

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Revised: May 25, 2006 1:38 PM .