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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs633901          
refSNP ID: rs633901
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
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
NM_001568.2:c.472-1557C>A
NT_008046.15:g.22461154G>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 ss2020447 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs633901 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
ss806545SC_JCM|AP001331.1_159697rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag07/27/0010/10/0383Genomicunknown
ss1191782KWOK|OVLP-000804-634643rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag09/02/0010/10/0386Genomic99 %
ss1191886KWOK|OVLP-000804-634845fwd/TA/Cctattgatgatgaacatttagattacttttgtttttgcctattaaaaataaagttagtat09/02/0010/10/0386Genomic99 %
ss1261063KWOK|OVLP-000804-633257fwd/TA/Cctattgatgatgaacatttagattacttttgtttttgcctattaaaaataaagttagtat09/02/0010/10/0386Genomic97 %
ss1535321LEE|649373fwd/TA/Cctattgatgatgaacatttagattacttttgtttttgcctattaaaaataaagttagtat09/13/0010/10/0392cDNAunknown
ss2020447KWOK|OVLP-000925-583326byFreqrev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag10/06/0010/25/0687Genomic99 %
ss2020484KWOK|OVLP-000925-583908fwd/TA/Cctattgatgatgaacatttagattacttttgtttttgcctattaaaaataaagttagtat10/06/0010/10/0387Genomic99 %
ss2054474KWOK|OVLP-000925-576689fwd/TA/Cctattgatgatgaacatttagattacttttgtttttgcctattaaaaataaagttagtat10/06/0010/10/0387Genomic97 %
ss17957687CSHL-HAPMAP|CSHL-HuCC-200402.chr8.NT_008046.14_22461154rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag02/19/0403/04/04120Genomicunknown
ss22686568SSAHASNP|WGSA-200403-chr8.chr8.NT_008046.14_22461154rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag03/21/0403/21/04121Genomicunknown
ss43138539ABI|hCV606548rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag07/18/0507/18/05126Genomicunknown
ss81208304HGSV|Cor18507_SNV_20070510.chr8_109312157rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag11/26/0711/28/07130Genomicunknown
ss81852032HGSV|Cor18956_SNV_20070510.chr8_109312157rev/BG/Tatactaactttatttttaataggcaaaaacaaaagtaatctaaatgttcatcatcaatag11/30/0712/01/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs633901|allelePos=631|totalLen=1227|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TGTCACTGTA AGAATTGTGC ATTTAATATT GATCTTCAAG CATAGTTTTG CATATTTTAA
 CATCTGAAAT CAGAAAGTGT CTTTACTGGG TTTTTGGTTT TAGAAacata aaataataat
 gtatgttaaa attgatggca tttttgactc gatgatatat TTTTATATTC AGATATCCTT
 TATAAGAATT AAACATTTTA TCCTTTGTAA TTAGAACAAT TATTTTATGG ATTTTGATAA
 ACCAGTTTTT AAATTttcaa tgaattttga aacatttgtg tacttgtgtg gctacattaa
 gtcaagataa agaacatttc tgtcacctca gaaagaccct ttttgttctt ttgtggccat
 actccaccca tggtcctggg catccattga cctgctttct gtccctgtag attagttttg
 cctgttctag aattttatgt atgtaagtgg aatgatgtac tatgtatgtt tgtgtttggc
 ttatttttac cagcaagttt ttgaggttca tgttattgtg tgtatcagaa gttagtttct
 atttattgct cagtagtatt tcattctgtg aatttaccat ggtctgttta atatattcat
 ctattgatga tgaacattta gattactttt
 M
 gtttttgcct attaaaaata aagttagtat gaatatgcat gtacaagttg tattgtggat
 ataCTTTGTG ATAATAACTA GAACCAGGAG TGGTTCAAAA TTTAATTTAC ACATCTACTC
 CCTGTGTTAT TTGCCTGCTC TTAGTGTGCC AAATGTTATT TAGTACATTT GAAAGGAAGA
 ATCTCAGTAT AGACTGAGTT TGTATTGTGG TCCCCAATGT TTAGATCata tatctgtaaa
 tatgtataca catttacata tagataaata taaatttacg tatgtaaatg tatatgtaaa
 tatatgtaaa tctgtatacc tatCTCTGCG ATGATTTTCA TCATCATTTC AGTAACTCAG
 ATTTACCAAG TTCTTATTCT GTATCAGGTG ATAATTGTAA TCCCTGTATG TCTTATGTCA
 CTTAAACTAT ACAACTGAGG TGGGTTCTAT CCCCATGTTG CAGTGAGGAA GCTAAAGTAC
 AAACTAGCTG TTAAGTGGTA GAGACAGAAT TCTTGATTGG ATTTCTGATC CTGCACATAT
 AATTTAACTT GTAATTATGA TATCTCTTGA TATTTATACT ATTATGTAAA AGTGCT

  GeneView back to top
GeneView via analysis of contig annotation: EIF3E eukaryotic translation initiation factor 3, subunit E
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_008046->NM_001568
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_008046->NM_001568->NP_00155922461154reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs633901 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
8NW_001839136.122505883104564359minusTalt_assembly_8HuRefHuRefview630
8NW_923984.122395444105430126minusGalt_assembly_1CeleraCeleraview630
8NT_008046.1522461154109312157minusGref_assemblyreferencereferenceview630

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008046 AC016997 AC018588 AC018588.4 AC020991 AC020991.3 AP001331.1 Hs.134990
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss2020447HapMap-CEUEuropean 120IG 0.233 0.550 0.217 0.439 0.508 0.492
HapMap-HCBAsian 90IG 0.289 0.489 0.222 1.000 0.533 0.467
HapMap-JPTAsian 88IG 0.091 0.455 0.455 0.318 0.682
HapMap-YRISub-Saharan African 118IG 0.390 0.407 0.203 0.251 0.593 0.407

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.500+/-0.00227021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .