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Reference SNP (refSNP) Cluster Report: rs281864822                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
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:A:germline
C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.00006/8 (TOPMED)
HGVS Names
  • CM000678.2:g.172992C>T
  • NC_000016.10:g.172992C>A
  • NC_000016.10:g.172992C>T
  • NC_000016.9:g.222991C>A
  • NC_000016.9:g.222991C>T
  • NG_000006.1:g.33855C>A
  • NG_000006.1:g.33855C>T
  • NG_046165.1:g.2731C>A
  • NG_046165.1:g.2731C>T
  • NM_000517.4:c.80C>A
  • NM_000517.4:c.80C>T
  • NP_000508.1:p.Ala27Glu
  • NP_000508.1:p.Ala27Val
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 ss263198746 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs281864822 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
ss79088546HBVAR|HbVar.39_1fwd/TA/Caggtcggcgcgcacgctggcgagtatggtgggaggccctggagaggtgaggctccctccc10/02/1210/10/12137Genomicunknown
ss79089485HBVAR|HbVar.832fwd/BC/Taggtcggcgcgcacgctggcgagtatggtgggaggccctggagaggtgaggctccctccc10/02/1210/10/12137Genomicunknown
ss263198746OMIM-CURATED-RECORDS|2691fwd/BC/Taggtcggcgcgcacgctggcgagtatggtgggaggccctggagaggtgaggctccctccc11/08/1011/08/10137Genomicunknown
ss2741559643GNOMAD|exomes_rs281864822fwd/C/Tggcgcgcacgctggcgagtatggtgggaggccctggagaggtgaggctcc05/17/1705/17/17151Genomicunknown
ss3237362285TOPMED|TOPMed_freeze_5?chr16:172,992fwd/C/Tggcgcgcacgctggcgagtatggtgggaggccctggagaggtgaggctcc10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs281864822|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 CCCCGCGCAG GCCCCGCCCG GGACTCCCCT GCGGTCCAGG CCGCGCCCCG GGCTCCGCGC
 CAGCCAATGA GCGCCGCCCG GCCGGGCGTG CCCCCGCGCC CCAAGCATAA ACCCTGGCGC
 GCTCGCGGGC CGGCACTCTT CTGGTCCCCA CAGACTCAGA GAGAACCCAC CATGGTGCTG
 TCTCCTGCCG ACAAGACCAA CGTCAAGGCC GCCTGGGGTA AGGTCGGCGC GCACGCTGGC
 GAGTATGGTG
 H
 GGAGGCCCTG GAGAGGTGAG GCTCCCTCCC CTGCTCCGAC CCGGGCTCCT CGCCCGCCCG
 GACCCACAGG CCACCCTCAA CCGTCCTGGC CCCGGACCCA AACCCCACCC CTCACTCTGC
 TTCTCCCCGC AGGATGTTCC TGTCCTTCCC CACCACCAAG ACCTACTTCC CGCACTTCGA
 CCTGAGCCAC GGCTCTGCCC AGGTTAAGGG CCACGGCAAG AAGGTGGCCG ACGCGCTGAC
 CAACGCCGTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000508  
OMIM
141800.0132
141850.0041

  Population Diversity (Alleles in RefSNP orientation) back to top
There is no frequency data.

  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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