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Reference SNP (refSNP) Cluster Report: rs115824043                 
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:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.00005/6 (ExAC)
HGVS Names
  • CM000663.2:g.17823340G>A
  • NC_000001.10:g.18149835G>A
  • NC_000001.11:g.17823340G>A
  • NM_030812.2:c.332G>A
  • NP_110439.2:p.Arg111Gln
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 ss217400047 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs115824043 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
ss2174000471000GENOMES|pilot_3_JPT_19_chr1_18022422fwd/TA/Gcggagacacccttgagggagcctgcggaccaaagaagatgctggaggtgaggcctgccgg04/09/1004/09/10132Genomicunknown
ss4886550441000GENOMES|20110521_exome_4337_chr1_18149835fwd/TA/Gcggagacacccttgagggagcctgcggaccaaagaagatgctggaggtgaggcctgccgg02/10/1202/13/12137Genomicunknown
ss1685351859EVA_EXAC|EVA_EXAC_144588fwd/A/Gacacccttgagggagcctgcggaccaaagaagatgctggaggtgaggcct03/04/1503/04/15144Genomicunknown
ss2160392609HUMAN_LONGEVITY|HLI-1-17823340-G-Afwd/A/Gacacccttgagggagcctgcggaccaaagaagatgctggaggtgaggcct11/18/1611/18/16150Genomicunknown
ss2731193643GNOMAD|exomes_rs115824043fwd/A/Gacacccttgagggagcctgcggaccaaagaagatgctggaggtgaggcct05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs115824043|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CAGCTATGCC CGTAGGCGTG TGAGCCTGGG CATCGACATT TGCCATCCTG ACACCTTTAG
 CTACCCCATC GAGCGGGGCC GCATCCTCAA CTGGGAGGGT GTGCAGTACC TCTGGTCATT
 TGTGTTGGAG AACCACAGAC GGGAGCAAGA GGTCCCCCCT GTGATCATCA CGGAGACACC
 CTTGAGGGAG CCTGCGGACC
 R
 AAAGAAGATG CTGGAGGTGA GGCCTGCCGG GGCCTGCTCC CACTCGGGAG CGGGAAACAG
 ACTGACACTA TGTCTGGACT GATTGGGCAC CAGGAATTCT GCTTTTTAAG ATAAATTGCC
 AACCAGGTGT GGTGGCTTAT GCCTGTAATC CCAACACTTT GGGACTCCCA GGCAGGCAGA
 TTGCTTGAGC CCAGGAGTTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_110439  

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

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1685351859ExAc_Aggregated_Populations121410AF 0.000049420.99995059
ss217400047pilot_3_JPT_exon_capture_panel 190AF 0.005263160.99473685

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0070000

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