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Reference SNP (refSNP) Cluster Report: rs121913223                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (REV)
Allele Origin:A:germline
T:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000667.2:g.80633904T>A
  • NC_000005.10:g.80633904T>A
  • NC_000005.9:g.79929723T>A
  • NG_023304.1:g.26078A>T
  • NM_000791.3:c.458A>T
  • NM_001290354.1:c.302A>T
  • NM_001290357.1:c.369+3979A>T
  • NP_000782.1:p.Asp153Val
  • NP_001277283.1:p.Asp101Val
  • NR_110936.1:n.773A>T
  • XP_005248512.1:p.Asp116Val
  • XP_005248513.1:p.Asp101Val
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 ss275515041 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121913223 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
ss275515041HCULM|DHFR_001fwd/A/Tttgaaagtgacacgttttttccagaaattgtttggagaaatataaacttctgccagagta11/22/1011/22/10133Genomicunknown
ss1958799154ILLUMINA|5:79929723-A-T-0_T_F_2304278819rev/A/Ttggcagaagtttatatttctccaaacaatttctggaaaaaacgtgtcact11/13/1511/13/15147Genomicunknown
ss2735094356GNOMAD|exomes_rs121913223rev/A/Ttggcagaagtttatatttctccaaacaatttctggaaaaaacgtgtcact05/17/1705/17/17151Genomicunknown
ss3022502121ILLUMINA|MEGA_Consortium_v2_15070954_A2_5:79929723-A-T-0_T_F_2304278819rev/A/Ttggcagaagtttatatttctccaaacaatttctggaaaaaacgtgtcact06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121913223|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 CTTTGCAGCA CCCCAGATGA AAGAATAGTA TATTTTAATA ATATGCTTTG GCAGCACCAA
 GCATATTTTT AATACCTAGT ATAAACTTAA CTAAACATAA ATCTTAGAGT TTCTTTGTCT
 TTTGACACAC ATTAAGAAAA CTGATGTTGT TTTATTTCAA AGGAAGCCAT GAATCACCCA
 GGCCATCTTA AACTATTTGT GACAAGGATC ATGCAAGACT TTGAAAGTGA CACGTTTTTT
 CCAGAAATTG
 W
 TTTGGAGAAA TATAAACTTC TGCCAGAGTA AGTATAAGGT TATTAATTAG TCTGAAGCAC
 TTTGGATTTC CTGCTTAAGA CTATAGAAAA TAACATGTCT TTTCAGACTA CAAATTGGGT
 TCACTGTGTA CTGCTAGGAT GATGGGTGCA CCAAAATCTC ACAGATCACT ACTAAAGAAC
 TTACTCATGT AACCAAATAC AACCTGTTCC CCAAAAACCT ATGGAAATAA TAAATTAAAA
 AAAAAAAAAA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000782  
OMIM
126060

  Population Diversity (Alleles in RefSNP orientation) Note: rs121913223 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
byClusterUNKNOWNUNKNOWNUNKNOWN

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