NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs218041          
refSNP ID: rs218041
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
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 ss1967207 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs218041 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
ss283808KWOK|OVLP-000621-234296fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc06/30/0010/10/0379Genomic97 %
ss1032095KWOK|OVLP-000804-426200fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc09/02/0010/10/0386Genomic97 %
ss1967207KWOK|OVLP-000925-724660byFreqfwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc10/06/0004/07/0489Genomic97 %
ss2432750SC_JCM|AC034214.4_93338fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc11/03/0010/10/0389Genomicunknown
ss6478110WI_SSAHASNP|NT_006576.11_5815074rev/BC/Tgaagaaagagtaccattttttgttggatagtctctgtctgtgccacaaacaccttgtgcg02/12/0310/10/03111Genomicunknown
ss17096247CSHL-HAPMAP|CSHL-HuAA-200402.chr5.NT_023089.13_9557779rev/BC/Tgaagaaagagtaccattttttgttggatagtctctgtctgtgccacaaacaccttgtgcg02/17/0403/04/04120Genomicunknown
ss22357928SSAHASNP|WGSA-200403-chr5.chr5.NT_023089.13_9557779rev/BC/Tgaagaaagagtaccattttttgttggatagtctctgtctgtgccacaaacaccttgtgcg03/21/0403/21/04121Genomicunknown
ss44639400ABI|hCV2547853rev/BC/Tgaagaaagagtaccattttttgttggatagtctctgtctgtgccacaaacaccttgtgcg07/19/0507/19/05126Genomicunknown
ss66643799ILLUMINA|HumanHap300v1.1_rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc11/09/0611/09/06127Genomicunknown
ss67231213ILLUMINA|HumanHap550v1.1_rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc11/14/0611/14/06127Genomicunknown
ss67626756ILLUMINA|HumanHap650Yv1.0_rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc11/14/0611/14/06127Genomicunknown
ss70709532ILLUMINA|HumanHap550v3.0__rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc04/20/0703/30/08130Genomicunknown
ss71276665ILLUMINA|HumanHap650Yv3.0_rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc04/23/0704/23/07127Genomicunknown
ss75493030ILLUMINA|ILMN_Human_1M_rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc08/28/0708/29/07129Genomicunknown
ss76453138AFFY|AFFY_6_1M_SNP_A-8314122fwd/TA/Ggtggcacagacagagactatccaacaaaaaat08/28/0708/30/07130Genomicunknown
ss79118688ILLUMINA|HumanHap300v2.0_rs218041fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc04/18/0711/18/07130Genomicunknown
ss81315189HGSV|Cor18507_SNV_20070510.chr5_9628041rev/BC/Tgaagaaagagtaccattttttgttggatagtctctgtctgtgccacaaacaccttgtgcg11/26/0711/29/07130Genomicunknown
ss82133454HGSV|Cor18555_SNV_20070510.chr5_9628041rev/BC/Tgaagaaagagtaccattttttgttggatagtctctgtctgtgccacaaacaccttgtgcg11/27/0712/02/07130Genomicunknown
ss83390141KRIBB_YJKIM|KHS450185fwd/TA/Gcgcacaaggtgtttgtggcacagacagagactatccaacaaaaaatggtactctttcttc12/04/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs218041|allelePos=201|totalLen=890|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ATGCTTTGAG AACTAGAATA CAAATTGTTT GTACAGAAAG ATGGAAGCAG AATGTTAGTC
 ATCCAGTGAT GTATGTAAAA GTTACCCCTT GAATTTTGAA ATAGAATTGA CATAACATTG
 ACATAAAAAG AAGTCCTGTG TTTTAAAATA TACGAGCAAA AACTTATTAT CGCACAAGGT
 GTTTGTGGCA CAGACAGAGA
 R
 CTATCCAACA AAAAATGGTA CTCTTTCTTC CATAATATAG AGATGGTTTT GGTAGGTGGT
 TTCCCAACTT aggacaacat tttccacctc aactttacat ttaagtctgg ccatatccaa
 ttatcttcaa tgtgatatga gtgggagtga tatgtgtgtc acttctgagc tggggtattt
 aagaagcagA TATGCttttt tttttttttt tttttttttt ttttttGctg tctttttgtc
 cttctgctgg ttagaggaag aagactttga gggtctactg tagcacccag ggcatagtgg
 agccacaaga tggaaggctt taggatctct gagtcacgag ttaaaggaaa actgactact
 ttccaggaat ttctcactgg actcttacat gatccatgaa caacaacaac aaaaactgca
 ttatattaaa caaccaaagt gttggactta tttgttacag cagctagcat tgtcctaaTA
 AAGCAGAAGT ATAAGTTGAA AATATACAGA GAGCAGAAAC CACTCAAATA AATTAATGTA
 TGGTAGGttt atattttatt taaggaaata taaagtattt atatttaaaG AAAGCTAAGG
 CATATGTGTG CCTAAATTTT TCCTATTGAC TTTACGTACA TTCAAACATG CCTCTTTCAC
 TATCAGGGCT CTACTCAAAT ATGCTAACT

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs218041 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_001838927.118348069558708minusCalt_assembly_8HuRefHuRefview200
5NW_922518.187177869615354minusCalt_assembly_1CeleraCeleraview200
5NT_006576.1595650419628041minusTref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023089 AC003015 AC034214.4
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1967207HapMap-CEUEuropean 120IG 0.350 0.483 0.167 1.000 0.592 0.408
HapMap-HCBAsian 90IG 0.133 0.422 0.444 0.752 0.344 0.656
HapMap-JPTAsian 90IG 0.222 0.422 0.356 0.273 0.433 0.567
HapMap-YRISub-Saharan African 120IG 0.250 0.467 0.283 0.655 0.483 0.517

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.499+/-0.02627021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION:
FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .