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Reference SNP (refSNP) Cluster Report: rs121964890                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/141
Map to Genome Build:106/Weight
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewerlink to OMIM
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000020.11:g.3083039G>A
  • NG_008663.1:g.6686C>T
  • NM_000490.4:c.260C>T
  • NP_000481.2:p.Ser87Phe
  • NT_011387.9:g.3023039G>A
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence 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 ss288288139 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121964890 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
ss288288139OMIM-CURATED-RECORDS|6068fwd/BC/Taggagaactacctgccgtcgccctgccagtcggccagaaggcgtgcgggagcgggggccg12/21/1012/21/10133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121964890|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=133
 TCCCGCCCGC ACTCCGAGCC CTGGACCCCA GCATCCCCGC CTCGCTGCGT TCCCCTCCAA
 CCCCTCGACT CCCGGCTCCC CTCCTCCCGC TCACCCCGCC CGTCCCCGCA GTGCCTCCCC
 TGCGGCCCCG GGGGCAAAGG CCGCTGCTTC GGGCCCAGCA TCTGCTGCGC GGACGAGCTG
 GGCTGCTTCG TGGGCACGGC TGAGGCGCTG CGCTGCCAGG AGGAGAACTA CCTGCCGTCG
 CCCTGCCAGT
 Y
 CGGCCAGAAG GCGTGCGGGA GCGGGGGCCG CTGCGCCGCC TTCGGCGTTT GCTGCAACGA
 CGGTGCGCGG CGGGGGCGGG CCTGGGGCTG GGGGGGGCGC AGACCGCTTG GGTGGGGGGG
 ACGCGGGCCT GCGGCGGGGT GGGGGCTGCG TCGGGCCCGG CAGGGAGGGT GTGGGCCCCC
 CGCACCCCGA GCTGCGCCCG CCCCAGGGCG CCCGTGCTCA CACGTCCTCC CGGCAGAGAG
 CTGCGTGACC

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000481  
OMIM
192340.0014

  Population Diversity (in rs orientation) Note: rs121964890 allele is reverse to the genome 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
UNKNOWNUNKNOWNUNKNOWN

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