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Reference SNP (refSNP) Cluster Report: rs121913297                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/150
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:G:germline
T:somatic
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
NA
HGVS Names
  • NC_000013.10:g.49039164G>T
  • NC_000013.11:g.48465028G>T
  • NG_009009.1:g.166282G>T
  • NM_000321.2:c.2242G>T
  • NP_000312.2:p.Glu748Ter
  • XM_011535171.2:c.1981G>T
  • XP_011533473.1:p.Glu661Ter
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 ss275515138 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121913297 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
ss275515138DF-BWCC|Cosmic:868fwd/BG/Tacattcaaacgtgttttgatcaaagaagagagtatgattctattatagtattctataact11/22/1005/19/11133Genomicunknown
ss295476500OMIM-CURATED-RECORDS|5205fwd/BG/Tacattcaaacgtgttttgatcaaagaagagagtatgattctattatagtattctataact02/04/1102/04/11133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121913297|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=133
 ATTCTGTGAC ATTTCACTTC TAGAAGAGCA GCTATAATCC AAGCCTAAGA AGTAATTTTA
 TTTATTTATT ATTTTTTCCT TTATAATATG TGCTTCTTAC CAGTCAAAAA GTATTATAAA
 CTATTAGAAA AGAAAATCTA AAGGTAGAAA TTTTAAAATT CATTTAACAA GTAAATTTTA
 CTTTTTTTTT TTTTTTTTTT TTTTTACTGT TCTTCCTCAG ACATTCAAAC GTGTTTTGAT
 CAAAGAAGAG
 K
 AGTATGATTC TATTATAGTA TTCTATAACT CGGTCTTCAT GCAGAGACTG AAAACAAATA
 TTTTGCAGTA TGCTTCCACC AGGGTAGGTC AAAAGTATCC TTTGATTGGA AAAATCTAAT
 GTAATGGGTC CACCAAAACA TTAAATAAAT AATCTACTTT TTTGTTTTTG CTCTAGCCCC
 CTACCTTGTC ACCAATACCT CACATTCCTC GAAGCCCTTA CAAGTTTCCT AGTTCACCCT
 TACGGATTCC

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000312  
OMIM
180200.0010

  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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