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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4987076          **clinically associated**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:link to VariationViewerlink to OMIM
HGVS Names
NM_000662.4:c.445G>A
NP_000653.3:p.Val149Ile
NT_030737.9:g.5924929G>A
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 ss32478880 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4987076 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
ss5606338SNP500CANCER|NAT1-05byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacrgaagagaatggattct12/04/0204/07/04113Genomicunknown
ss24180117PERLEGEN|afd4609973fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct08/10/0408/21/04123Genomicunknown
ss32478880EGP_SNPS|NAT1-055276byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/06/0511/02/06125Genomicunknown
ss38341549OMIMSNP|OMIM_108345_0002fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct05/17/0505/17/05125cDNAunknown
ss68384565CSHL-HAPMAP|sanger:assay:4249249:1byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/11/0701/16/07127NAunknown
ss69042330PERLEGEN|PGP04609973byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/30/0703/31/08127Genomicunknown
ss74815113AFFY|SNP_M-308526fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct08/09/0708/09/07128Genomicunknown
ss84168378PHARMGKB_AB_DME|PS206058_PA147980921_301fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct12/06/0712/09/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4987076|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CGGGGTGGAT GGTGTCTCCA GGTCAATCAT CTTCTGTACT GGGCTCTGAC CACTATTGGT
 TTTGAGACCA CGATGTTGGG AGGGTATGTT TACAGCACTC CAGCCAAAAA ATACAGCACT
 GGCATGATTC ACCTTCTCCT GCAGGTGACC ATTGATGGCA GGAACTACAT TGTCGATGCT
 GGGTTTGGAC GCTCATACCA GATGTGGCAG CCTCTGGAGT TAATTTCTGG GAAGGATCAG
 CCTCAGGTGC CTTGT
 R
 TCTTCCGTTT GACGGAAGAG AATGGATTCT GGTATCTAGA CCAAATCAGA AGGGAACAGT
 ACATTCCAAA TGAAGAATTT CTTCATTCTG ATCTCCTAGA AGACAGCAAA TACCGAAAAA
 TCTACTCCTT TACTCTTAAG CCTCGAACAA TTGAAGATTT TGAGTCTATG AATACATACC
 TGCAGACATC TCCATCATCT GTGTTTACTA GTAAATCATT TTGTTCCTTG CAGACCCCAG
 ATGGGGTTCA CTGTT

  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
NT_030737.5 42741670
dbSNP Blast Analysis
UniGene Cluster ID
155956
OMIM
108345.0002

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss24180117 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 1.000 1.000
AFD_CHN_PANEL Asian 48 IG 0.042 0.958 1.000 0.021 0.979
ss32478880 PDR90 Global 176 IG 0.034 0.966 1.000 0.017 0.983
HapMap-CEU European 120 IG 0.050 0.950 1.000 0.025 0.975
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.017 0.983 1.000 0.008 0.992
ss5606338 P1 204 GF 0.020 0.980 1.000 0.010 0.990
CAUC1 62 GF 0.065 0.935 1.000 0.033 0.967
AFR1 48 GF 1.000 1.000
HISP1 46 GF 1.000 1.000
PAC1 48 GF 1.000 1.000
ss69042330 HapMap-CEU European 120 GF 0.050 0.950 0.025 0.975
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.017 0.983 0.008 0.992
ss84168378 PA147980922 360 AF 0.003 0.997

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.020+/-0.099 671 549 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
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .