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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1133400          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
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
NM_005539.3:c.134A>G
NP_005530.3:p.Lys45Arg
NT_017795.18:g.731861A>G
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 ss48411911 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1133400 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
ss1532747LEE|587152fwd/TA/Ggggaattttaccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga09/13/0010/10/0386cDNAunknown
ss4421742LEE|e587152fwd/TA/Ggggaattttaccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga04/26/0210/10/03108cDNAunknown
ss5004926YUSUKE|IMS-JST179071byFreqrev/BC/Ttcctgacagtgcaaggccatgaagtgcggctgtgtgtgtgcacgacctggagggagagaa08/12/0210/10/03126Genomicunknown
ss16242701CGAP-GAI|1482646fwd/TA/Ggggaattttaccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga11/18/0311/22/03126cDNAunknown
ss24090718PERLEGEN|afd4266049byFreqfwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga08/10/0409/13/04126Genomicunknown
ss48411911APPLERA_GI|hCV25749178byFreqfwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga09/28/0511/03/06126Genomicunknown
ss65772101ILLUMINA|Human1-rs3818511rev/BC/Ttcctgacagtgcaaggccatgaagtgcggctgtgtgtgtgcacgacctggagggagagaa10/10/0610/10/06127Genomicunknown
ss66682006ILLUMINA|HumanHap300v1.1_rs3818511rev/BC/Ttcctgacagtgcaaggccatgaagtgcggctgtgtgtgtgcacgacctggagggagagaa11/09/0611/09/06127Genomicunknown
ss67306465ILLUMINA|HumanHap550v1.1_rs3818511rev/BC/Ttcctgacagtgcaaggccatgaagtgcggctgtgtgtgtgcacgacctggagggagagaa11/14/0611/14/06127Genomicunknown
ss67711659ILLUMINA|HumanHap650Yv1.0_rs3818511rev/BC/Ttcctgacagtgcaaggccatgaagtgcggctgtgtgtgtgcacgacctggagggagagaa11/14/0611/14/06127Genomicunknown
ss71639615ILLUMINA|HumanHap650Yv3.0_rs1133400fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga04/23/0704/23/07127Genomicunknown
ss75888243ILLUMINA|ILMN_Human_1M_rs1133400fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga08/28/0708/29/07129Genomicunknown
ss77484845HGSV|Cor12156_SNV_20070510.chr10_134309378fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga10/09/0710/13/07129Genomicunknown
ss79310465ILLUMINA|HumanHap300v2.0_rs1133400fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga04/18/0711/18/07130Genomicunknown
ss83687198KRIBB_YJKIM|KHS519489fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga12/04/0712/05/07130Genomicunknown
ss86347325CANCER-GENOME|4754fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga01/25/0801/25/08129Genomicunknown
ss98311427ILLUMINA|HumanHap550v3.0__rs1133400rev/BC/Ttcctgacagtgcaaggccatgaagtgcggctgtgtgtgtgcacgacctggagggagagaa04/20/0703/31/08130Genomicunknown
ss1098919691000GENOMES|CEU.trio.12.15.2008_2465854_chr10_134309378fwd/TA/Gttctctccctccaggtcgtgcacacacacagccgcacttcatggccttgcactgtcagga12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1133400|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AATAAGGCCT CTAGATGATT GAAGAGGCTT CTGAGAAATC TGGACTCTTT TCTATGGAAT
 TTACAGTAAT GGGAAAATGA AAAGCACTGG AAATATAAAT AACTGGAAGC ACAAAGGCGA
 CGTGACTCCT AGAATCTGTC CAGAACCCAT GGTCGCAGAC ATGGGGCCCC GTCTCTGCCA
 GACCCTGGTG GCTCCCAGGC TGTGGGGGCG GTGGAGGGGG TGGTGCCACG TGTGGCTCTG
 TGGACGGCTC CGACGACCCT GACAGTGTGC TTCTCTCCCT CCAGGTCGTG CACACACACA
 R
 GCCGCACTTC ATGGCCTTGC ACTGTCAGGA GTTTGGAGGG AAGAACTACG AGGCCTCCAT
 GTCCCACGTG GACAAGTTCG TCAAGTAAGT CTAGGGGCAG GTGCTGGTGC ATGTCCACTT
 CCCAGGGGTG TGGGGTGCCG GCGGGGGTCT TTTCATGGTA CTATGATCAC CAGCCTCACC
 ATTCGGGACT CACCTGGGGG TCATCTTGGC TGAGTCTCAG TTTTCCAAAG AGAGGAGTGG
 CCCAGACGTG TGGCCACGAG CCTCCTTGGG GCGGCGACAG AAGGCCACGG AGTGACAGCC

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NC_000010.8 AW473501 Hs.124029
dbSNP Blast Analysis
UniGene Cluster ID
523360

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss24090718 AFD_EUR_PANEL European 46 IG 0.609 0.304 0.087 0.439 0.761 0.239
AFD_AFR_PANEL African American 46 IG 0.696 0.304 0.403 0.848 0.152
AFD_CHN_PANEL Asian 48 IG 0.417 0.542 0.042 0.251 0.688 0.312
ss48411911 HapMap-CEU European 120 IG 0.517 0.350 0.133 0.100 0.692 0.308
HapMap-HCB Asian 90 IG 0.556 0.356 0.089 0.733 0.267
HapMap-JPT Asian 90 IG 0.533 0.356 0.111 0.711 0.289
HapMap-YRI Sub-Saharan African 120 IG 0.900 0.100 0.752 0.950 0.050
AGI_ASP population multiple 68 IG 0.706 0.294 0.317 0.853 0.147
ss5004926 JBIC-allele 1496 AF 0.716 0.284
CEPH 184 AF 0.860 0.140

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.339+/-0.233 1299 1088 15 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .