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Reference SNP (refSNP) Cluster Report: rs4986997                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.000008/1 (ExAC)
HGVS Names
  • CM000670.2:g.18400414A>C
  • CM000670.2:g.18400414A>T
  • NC_000008.10:g.18257924A>C
  • NC_000008.10:g.18257924A>T
  • NC_000008.11:g.18400414A>C
  • NC_000008.11:g.18400414A>T
  • NG_012246.1:g.14170A>C
  • NG_012246.1:g.14170A>T
  • NM_000015.2:c.411A>C
  • NM_000015.2:c.411A>T
  • NP_000006.2:p.Leu137Phe
  • XP_016868427.1:p.Leu137Phe
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

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


  Submitter records for this RefSNP Cluster back to top
The submission ss5586802 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986997 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
ss5586802SNP500CANCER|NAT2-10byFreqfwd/TA/Tctcctcccagatgtggcagcctctagaattatttctgggaaggatcagcctcaggtgcct09/26/0204/07/04113Genomicunknown
ss1689107856EVA_EXAC|EXAC_0.3.8:g18257924a>cfwd/A/Ccccagatgtggcagcctctagaattatttctgggaaggatcagcctcagg03/04/1503/04/15144Genomicunknown
ss2711131670ILLUMINA|Consortium-OncoArray_15047405_A_rs4986997-131_B_R_2111782095fwd/A/Tcccagatgtggcagcctctagaattatttctgggaaggatcagcctcagg03/22/1703/22/17151Genomicunknown
ss2737016682GNOMAD|exomes_rs4986997fwd/A/Ccccagatgtggcagcctctagaattatttctgggaaggatcagcctcagg05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986997|allelePos=119|totalLen=172|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 TTAACAAATA CAGCACTGGC ATGGTTCACC TTCTCCTGCA GGTGACCAYT GACGGCAGGA
 ATTACATTGT CRATGCTGGG TCTGGAAGCT CCTCCCAGAT GTGGCAGCCT CTAGAATT
 H
 ATTTCTGGGA AGGATCAGCC TCAGGTGCCT TGCATTTTCT GCTTGACAGA AGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030737.5
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/T
HWPA
C
T
ss1689107856ExAc_Aggregated_Populations121408AF 0.999991770.00000824
ss5586802P1 202AF0.989999950.010000001.000000000.99500000 0.00500000
CAUC1 62AF0.967999990.032000001.000000000.98399997 0.01600000
AFR1 48AF1.00000000 1.00000000
HISP1 46AF1.00000000 1.00000000
PAC1 46AF1.00000000 1.00000000
HapMap-CEUEuropean 120IG1.00000000 1.00000000
HapMap-HCBAsian 90IG1.00000000 1.00000000
HapMap-JPTAsian 88IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterUNKNOWNUNKNOWNUNKNOWN

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