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Reference SNP (refSNP) Cluster Report: rs281864834                 ** other **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/142
Map to Genome Build:106/Weight
Validation Status:byCluster
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:A:germline
C:germline
G:germline
T:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:other
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000016.10:g.173171G>A
  • NC_000016.10:g.173171G>C
  • NC_000016.10:g.173171G>T
  • NC_000016.9:g.223170G>A
  • NC_000016.9:g.223170G>C
  • NC_000016.9:g.223170G>T
  • NG_000006.1:g.34034G>A
  • NG_000006.1:g.34034G>C
  • NG_000006.1:g.34034G>T
  • NM_000517.4:c.142G>A
  • NM_000517.4:c.142G>C
  • NM_000517.4:c.142G>T
  • NP_000508.1:p.Asp48Asn
  • NP_000508.1:p.Asp48His
  • NP_000508.1:p.Asp48Tyr
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 ss263198721 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs281864834 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
ss79088594HBVAR|HbVar.65fwd/C/Gcccaccaccaagacctacttcccgcacttcacctgagccacggctctgcccaggttaagg10/02/1210/10/12137Genomicunknown
ss79088596HBVAR|HbVar.66_1fwd/TA/Gcccaccaccaagacctacttcccgcacttcacctgagccacggctctgcccaggttaagg10/02/1210/10/12137Genomicunknown
ss79088599HBVAR|HbVar.68fwd/BG/Tcccaccaccaagacctacttcccgcacttcacctgagccacggctctgcccaggttaagg10/02/1210/10/12137Genomicunknown
ss263198721OMIM-CURATED-RECORDS|2662fwd/C/Gcccaccaccaagacctacttcccgcacttcacctgagccacggctctgcccaggttaagg11/08/1011/08/10137Genomicunknown
ss263198732OMIM-CURATED-RECORDS|2675fwd/BG/Tcccaccaccaagacctacttcccgcacttcacctgagccacggctctgcccaggttaagg11/08/1011/08/10137Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs281864834|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=137
 GTCTCCTGCC GACAAGACCA ACGTCAAGGC CGCCTGGGGT AAGGTCGGCG CGCACGCTGG
 CGAGTATGGT GCGGAGGCCC TGGAGAGGTG AGGCTCCCTC CCCTGCTCCG ACCCGGGCTC
 CTCGCCCGCC CGGACCCACA GGCCACCCTC AACCGTCCTG GCCCCGGACC CAAACCCCAC
 CCCTCACTCT GCTTCTCCCC GCAGGATGTT CCTGTCCTTC CCCACCACCA AGACCTACTT
 CCCGCACTTC
 N
 ACCTGAGCCA CGGCTCTGCC CAGGTTAAGG GCCACGGCAA GAAGGTGGCC GACGCGCTGA
 CCAACGCCGT GGCGCACGTG GACGACATGC CCAACGCGCT GTCCGCCCTG AGCGACCTGC
 ACGCGCACAA GCTTCGGGTG GACCCGGTCA ACTTCAAGGT GAGCGGCGGG CCGGGAGCGA
 TCTGGGTCGA GGGGCGAGAT GGCGCCTTCC TCTCAGGGCA GAGGATCACG CGGGTTGCGG
 GAGGTGTAGC

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000508  
OMIM
141850.0025
141850.0012
141800.0005

  Population Diversity (in rs 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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