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Reference SNP (refSNP) Cluster Report: rs207459997                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/141
Map to Genome Build:106/Weight
Validation Status:byCluster
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:Link to VarView pendinglink to OMIM
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_012920.1:m.15615G>A
  • YP_003024038.1:p.Gly290Asp
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 ss532259264 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs207459997 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
ss532259264OMIM-CURATED-RECORDS|8682fwd/TA/Gttctccgatccgtccctaacaaactaggagcgtccttgccctattactatccatcctcat06/20/1206/20/12136Genomicunknown
ss537713303NCBI-CURATED-RECORDS|24717fwd/TA/Gttctccgatccgtccctaacaaactaggagcgtccttgccctattactatccatcctcat07/19/1201/04/13137Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs207459997|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=137
 TTTCCTATTC GCCTACACAA TTCTCCGATC CGTCCCTAAC AAACTAGGAG
 R
 CGTCCTTGCC CTATTACTAT CCATCCTCAT CCTAGCAATA ATCCCCATCC

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
516020.0005

  Population Diversity (in rs 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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