NCBI
dbSNP
Attention: This page will be retired!
This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
Spacer gif

Spacer gif
Reference SNP (refSNP) Cluster Report: rs116713222                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.00006/7 (ExAC)
T=0.0002/1 (1000 Genomes)
HGVS Names
  • CM000663.2:g.17587523C>T
  • NC_000001.10:g.17914018C>T
  • NC_000001.11:g.17587523C>T
  • NG_050860.1:g.72327C>T
  • NM_001011722.2:c.101C>T
  • NM_001319837.1:c.101C>T
  • NM_018125.3:c.101C>T
  • NP_001011722.2:p.Ala34Val
  • NP_001306766.1:p.Ala34Val
  • NP_060595.3:p.Ala34Val
  • NR_137287.1:n.260C>T
  • NR_137288.1:n.260C>T
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 ss217399984 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs116713222 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
ss2173999841000GENOMES|pilot_3_JPT_8_chr1_17786605fwd/BC/Tcctctgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgatgaaga04/09/1004/09/10132Genomicunknown
ss4886548961000GENOMES|20110521_exome_4263_chr1_17914018fwd/BC/Tcctctgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgatgaaga02/10/1202/13/12137Genomicunknown
ss12898649101000GENOMES|PHASE3_V1_550524fwd/C/Tgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgat08/16/1408/16/14142Genomicunknown
ss1685350372EVA_EXAC|EVA_EXAC_143046fwd/C/Tgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgat03/04/1503/04/15144Genomicunknown
ss2160376999HUMAN_LONGEVITY|HLI-1-17587523-C-Tfwd/C/Tgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgat11/18/1611/18/16150Genomicunknown
ss2731191394GNOMAD|exomes_rs116713222fwd/C/Tgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgat05/17/1705/17/17151Genomicunknown
ss2746239608GNOMAD|coding_rs116713222fwd/C/Tgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgat05/17/1705/17/17151Genomicunknown
ss2752189918GNOMAD|rs116713222fwd/C/Tgaggcagaggacgacccaggagagggtttgagtttgatgacagtgatgat05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs116713222|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GAGTTTGATG GCTCTCATTC CCTGGCTCAG ACCTGAGGTG CTCACCCAGT TCCAGCCATG
 CCCACCTACC CCAGCCATCT CTCCATTGAC CAAACCTCGG AGATCCTGCA GCCTGGCCAA
 CTCCTTCTCT CTTCCAGGAG ATCAGCTGGT TCCAGGAGTC CCAGGCCCCT CCTCTGAGGC
 AGAGGACGAC CCAGGAGAGG
 Y
 GTTTGAGTTT GATGACAGTG ATGATGAAGA GGACACCAGC GCAGCCCTGG GCGTCCCCAG
 CCTTGCTCCT GAGAGGGACA CAGACCCCCC ACTGATCCAC TTGGACTCCA TCCCTGTCAC
 TGGTAAGATG TTTCTGGGAA CTTCCGGTCC TGGGGCTACA GGGAGCATGG AGAACTGGGC
 GGAAGCTCCA GGCTCTCAGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1289864910EAS 1008AF 0.999000010.00100000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685350372ExAc_Aggregated_Populations121412AF 0.999942360.00005765
ss217399984pilot_3_JPT_exon_capture_panel 206AF 0.995145620.00485437

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0080000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN