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Reference SNP (refSNP) Cluster Report: rs276174879                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/TA (FWD)
Allele Origin:-:germline
A:germline
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:-=0.0003/18 (ExAC)
HGVS Names
  • CM000675.2:g.32330907_32330908delTA
  • NC_000013.10:g.32905044_32905045delTA
  • NC_000013.11:g.32330907_32330908delTA
  • NG_012772.3:g.20428_20429delTA
  • NM_000059.3:c.682-12_682-11delTA
  • U43746.1:c.682-12_682-11delTA
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 ss538720560 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs276174879 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
ss538720560BIC_BRODY|U43746.1:c.682-12_682-11delTAfwd/-/TAgagagtttttatactagtgattttaaactaatttttgcagaatgtgaaaagctatttttc08/23/1208/23/12137Genomicunknown
ss1712035561EVA_EXAC|EXAC_0.3.13:g32905041cta>cbyFreqfwd/-/TAagtttttatactagtgattttaaactaatttttgcagaatgtgaaaagct03/04/1505/04/15136Genomicunknown
ss2359427155TOPMED|13_32905041_CTA/Cfwd/-/TAagtttttatactagtgattttaaactaatttttgcagaatgtgaaaagct11/19/1611/19/16136Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs276174879|allelePos=51|totalLen=101|taxid=9606|snpclass=2|alleles='-/TA'|mol=Genomic|build=137
 ACTACTACTA TATGTGCATT GAGAGTTTTT ATACTAGTGA TTTTAAACTA
 N
 ATTTTTGCAG AATGTGAAAA GCTATTTTTC CAATCATGAT GAAAGTCTGA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWP-
TA
ss1712035561ExAc_Aggregated_Populations121394AF 0.000164750.99983525

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0000

  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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