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Reference SNP (refSNP) Cluster Report: rs121913277                 ** With Likely 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/C/G (FWD)
Allele Origin:A:somatic
C:somatic
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic allele [ClinVar]
NA
HGVS Names
  • CM000665.2:g.179234302G>A
  • CM000665.2:g.179234302G>C
  • NC_000003.11:g.178952090G>A
  • NC_000003.11:g.178952090G>C
  • NC_000003.12:g.179234302G>A
  • NC_000003.12:g.179234302G>C
  • NG_012113.2:g.90780G>A
  • NG_012113.2:g.90780G>C
  • NM_006218.2:c.3145G>A
  • NM_006218.2:c.3145G>C
  • NM_006218.3:c.3145G>A
  • NM_006218.3:c.3145G>C
  • NP_006209.2:p.Gly1049Arg
  • NP_006209.2:p.Gly1049Ser
  • XP_006713721.1:p.Gly1049Arg
  • XP_006713721.1:p.Gly1049Ser
  • XP_011511196.1:p.Gly1049Arg
  • XP_011511196.1:p.Gly1049Ser
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 ss275515113 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121913277 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
ss275515113DF-BWCC|Cosmic:12597fwd/C/Gttcatgaaacaaatgaatgatgcacatcatgtggctggacaacaaaaatggattggatct11/22/1005/19/11133Genomicunknown
ss275515114DF-BWCC|Cosmic:777fwd/TA/Gttcatgaaacaaatgaatgatgcacatcatgtggctggacaacaaaaatggattggatct11/22/1005/19/11133Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121913277|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=133
 TCATTTGCTC CAAACTGACC AAACTGTTCT TATTACTTAT AGGTTTCAGG AGATGTGTTA
 CAAGGCTTAT CTAGCTATTC GACAGCATGC CAATCTCTTC ATAAATCTTT TCTCAATGAT
 GCTTGGCTCT GGAATGCCAG AACTACAATC TTTTGATGAC ATTGCATACA TTCGAAAGAC
 CCTAGCCTTA GATAAAACTG AGCAAGAGGC TTTGGAGTAT TTCATGAAAC AAATGAATGA
 TGCACATCAT
 V
 GTGGCTGGAC AACAAAAATG GATTGGATCT TCCACACAAT TAAACAGCAT GCATTGAACT
 GAAAAGATAA CTGAGAAAAT GAAAGCTCAC TCTGGATTCC ACACTGCACT GTTAATAACT
 CTCAGCAGGC AAAGACCGAT TGCATAGGAA TTGCACAATC CATGAACAGC ATTAGAATTT
 ACAGCAAGAA CAGAAATAAA ATACTATATA ATTTAAATAA TGTAAACGCA AACAGGGTTT
 GATAGCACTT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_006209  

  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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