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Reference SNP (refSNP) Cluster Report: rs397517141                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/141
Map to Genome Build:106/Weight
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:Not available
Clinical Channel:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000011.10:g.533502G>A
  • NG_007666.1:g.7049C>T
  • NM_001130442.1:c.401C>T
  • NM_005343.2:c.401C>T
  • NM_176795.3:c.401C>T
  • NP_001123914.1:p.Ala134Val
  • NP_005334.1:p.Ala134Val
  • NP_789765.1:p.Ala134Val
  • NT_009237.19:g.473502G>A
  • NT_187586.1:g.63143G>A
  • XM_006718217.1:c.401C>T
  • XM_006725136.1:c.401C>T
  • XP_006718280.1:p.Ala134Val
  • XP_006725199.1:p.Ala134Val
  • XR_242795.1:n.600C>T
  • XR_430702.1:n.600C>T
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 ss836317071 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs397517141 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
ss836317071LMM-PCPGM|SCV000062141fwd/BC/Tctgtggaatctcggcaggctcaggacctcgccgaagctacggcatcccctacatcgagac11/07/1311/27/13138Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs397517141|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=138
 GTGTGACCTG GCTGCACGCA CTGTGGAATC TCGGCAGGCT CAGGACCTCG
 Y
 CCGAAGCTAC GGCATCCCCT ACATCGAGAC CTCGGCCAAG ACCCGGCAGG

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

  Population Diversity (in rs orientation) Note: rs397517141 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
UNKNOWNUNKNOWNUNKNOWN

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