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Reference SNP (refSNP) Cluster Report: rs142886225                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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=0.0003/41 (ExAC)
T=0.0012/6 (1000 Genomes)
T=0.0005/60 (TOPMED)
HGVS Names
  • CM000672.2:g.95064931C>T
  • NC_000010.10:g.96824688C>T
  • NC_000010.11:g.95064931C>T
  • NG_007972.1:g.9567G>A
  • NM_000770.3:c.511G>A
  • NM_001198853.1:c.301G>A
  • NM_001198854.1:c.205G>A
  • NM_001198855.1:c.301G>A
  • NP_000761.3:p.Gly171Ser
  • NP_001185782.1:p.Gly101Ser
  • NP_001185783.1:p.Gly69Ser
  • NP_001185784.1:p.Gly101Ser
  • XR_001747030.1:n.830G>A
  • XR_246073.1:n.607G>A
  • XR_945610.1:n.607G>A
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 ss491001708 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs142886225 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
ss3363191521000GENOMES|20100804_snps_7962693_chr10_96824688fwd/C/Tcggagcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggtgaagc03/22/1103/22/11134Genomicunknown
ss4910017081000GENOMES|20110521_exome_509506_chr10_96824688fwd/BC/Tcggagcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggtgaagc02/10/1202/21/12137Genomicunknown
ss13386339431000GENOMES|PHASE3_V1_51337014fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt08/16/1408/16/14142Genomicunknown
ss1558274137BGI|AMD_SNP3139fwd/BC/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt02/05/1502/05/15144Genomicunknown
ss1690013089EVA_EXAC|EVA_EXAC_5172139fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt03/04/1503/04/15144Genomicunknown
ss1959285140ILLUMINA|10:96824688-CT-0_B_F_2299259240fwd/BC/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt11/13/1511/13/15147Genomicunknown
ss2177166277HUMAN_LONGEVITY|HLI-10-95064931-C-Tfwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt11/18/1611/18/16150Genomicunknown
ss2698844491GRF|rs142886225fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt02/13/1702/13/17151Genomicunknown
ss2738422493GNOMAD|exomes_rs142886225fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt05/17/1705/17/17151Genomicunknown
ss2748441979GNOMAD|coding_rs142886225fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt05/17/1705/17/17151Genomicunknown
ss2892156235GNOMAD|rs142886225fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt05/19/1705/19/17151Genomicunknown
ss3021265036ILLUMINA|MEGA_Consortium_v2_15070954_A2_10:96824688-CT-0_B_F_2299259240fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt06/28/1706/28/17151Genomicunknown
ss3127584658TOPMED|TOPMed_freeze_5?chr10:95,064,931fwd/C/Tcagatcacattgcagggagcacagccaggatgaaagtgggatcacagggt09/29/1709/29/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs142886225|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TTTTTAAACC AAGTCTTCCC TACAACCTTG AATAAATGGT TTCCAAGGAA AATAAAATCT
 TGGCCTTACC TGGATCCATG GGGAGTTCAG AATCCTGAAG TTTTCATTGA ATCTTTTCAT
 CAGGGTGAGA AAATTCTGAT CTTTATAATC AAATCGTTTC TGGAAAACAA CGGAGCAGAT
 CACATTGCAG GGAGCACAGC
 Y
 CAGGATGAAA GTGGGATCAC AGGGTGAAGC TAAAGATTTA AAAATTTTTA AAAAAATTAT
 TAAAAAATAA ATATTTAAAA GATTTGCATT TGTTAAGACA TAAAGGAAAT TTAGAAATTT
 TAAACAATAT CTTACAAATT CCCCATGTGT CCAAAAAAAA TCAGCATGGA TGAAATAAAC
 ACATTACTTT TACCTTAAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
dbSNP Blast Analysis
3D structure mapping
NP_000761  NP_001185782  NP_001185783  NP_001185784  

  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
ss1338633943EAS 1008AF 0.994000020.00600000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1690013089ExAc_Aggregated_Populations121412AF 0.999662280.00033769

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0180000

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

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