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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8069324          
refSNP ID: rs8069324
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NT_024871.11:g.511858A>C
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 ss12393037 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8069324 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
ss12393037WI_SSAHASNP|chr17.NT_024871.10_509996fwd/TA/Cggagatcctgggctctcaaaaaaacaacaaaaaaaaaaattagaaaaatgaggccaggca07/04/0310/10/03116Genomicunknown
ss20040248CSHL-HAPMAP|CSHL-HuFF-200402.chr17.NT_024871.11_511858fwd/TA/Cggagatcctgggctctcaaaaaaacaacaaaaaaaaaaattagaaaaatgaggccaggca02/21/0403/04/04120Genomicunknown
ss21414464SSAHASNP|WGSA-200403-chr17.chr17.NT_024871.11_511858fwd/TA/Cggagatcctgggctctcaaaaaaacaacaaaaaaaaaaattagaaaaatgaggccaggca03/19/0403/20/04121Genomicunknown
ss86090281HGSV|Cor18956_SNV_20070510.chr17_75722914fwd/TA/Cggagatcctgggctctcaaaaaaacaacaaaaaaaaaaattagaaaaatgaggccaggca11/30/0712/11/07130Genomicunknown
ss90674484BCMHGSC_JDW|JWB-1054502fwd/TA/Cggagatcctgggctctcaaaaaaacaacaaaaaaaaaaattagaaaaatgaggccaggca02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8069324|allelePos=480|totalLen=1284|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TGCCTTCAAG TAGAATCACC TGATGAAATT TAAAAATTAT TTCCAAGCTC ACCCTAACCC
 GGAAATAAAG ATTATCATCC CAACTAATTT CAGGAAGGGA GGGGCCAGTT TTAACATTTC
 CATTTCAAAT ATTAGAGCCC GGTCTgtggc tcatgtgtgt aatcccagca ctttgagagg
 ctgaggcggg aggactgctt gaagtcagga gtttaagacc agcctggtca acagagggag
 accctgtctt taaaaacatt taaaaaatta aaaattgggc agctgtggtg ctgtgtgcct
 ataaagctac AGGTAATTAC TTTAAATATT TCAACAGATA ACttaaatac tttaataatt
 taaatattta aaCAGATAAT TATCTGTTTT AGTTTgtcaa cattgtggta agtcatgatc
 ctgccactat actcctgcct gggcgacagg gagatcctgg gctctcaaaa aaacaacaa
 M
 aaaaaaaaat tagaaaaaTG Aggccaggca tggtggctca cacctgttat cccagcactt
 tgtaaggcca agatgggaga atcacttaaa cccatgagtg acagaccagc ctaggccaca
 aagtgagacc ctgtctctac aaaaaattta aatattagcc agatgtgctg gcatgcacct
 gtagtcccag ctactcagga gggtgaggtg agaggatcgc ttgagcccag gaggttgtgg
 ctgcaatgag ttgtgatggt gccactgctc ttcagcctgg gcagcagagc aaaactcATC
 AACGATGAAA CTCTTTCCAA AAAAAAAGAT TAGAAAAGTG AGTGAAATGg gccgggtgca
 gtggctcacg cctgtaatcc cagcactttg ggaggccgag gtgggtggat cacgaggtca
 ggagatcgag accatcttgg ctaacacggt gaaaccccgt ctctactgaa aatacaaaaa
 aattagcctg gcatggtggc ggccgcctgt actcccagct acgtgggagg ctgaggtagg
 agaatggcat gaacccagga agtggagctt gcggtgagag gagatcacgc cactgcgctc
 ctgcctgggc aacagaggga gactgtctca aaaaaaaaaa agaaaaagaa aagaaaaaaA
 GAAAAGTGAG TGAAATGACC CAAGACTACA CAGTAAGTTA CTAGAGAAGG TGGTGGCACC
 TTAGAAGTAT AGAGTTTATG GGAAAAGTTT TAAATTTTTA ATGAAAAAGA CTTAGAACAA
 TGTATTATTT ACATGTAAAT AAGA

  GeneView back to top
GeneView via analysis of contig annotation: EIF4A3 eukaryotic translation initiation factor 4A, isoform 3
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_024871->NM_014740
svfunction
CeleraNW_926918->NM_014740
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_024871->NM_014740->NP_055555511858reverse3' near gene
CeleraNW_926918->NM_014740->NP_05555515242699reverse3' near gene

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8069324 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
17NW_001838457.235990873549015minusGalt_assembly_8HuRefHuRefview479
17NW_926918.11524269974737298plusCalt_assembly_1CeleraCeleraview479
17NT_024871.1151185875722914plusAref_assemblyreferencereferenceview479

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024871
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC087741.18 NC_000017.9 AC015559.10 AC109321.15

  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 .