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Reference SNP (refSNP) Cluster Report: rs78232709                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/142
Map to Genome Build:106/Weight
Validation Status:
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/GCT (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:unknown
Clinical Significance:NA
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000005.10:g.137753259_137753260insGCT
  • NC_000005.9:g.137088948_137088949insGCT
  • NM_006805.3:c.807_808insAGC
  • NP_006796.1:p.Ser270_Gly271insSer
  • XM_005271955.1:c.-82-32676_-82-32675insAGC
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 ss103891807 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs78232709 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
ss103891807BCMHGSC_JDW|JWB-4204648fwd/-/GCTactgcctccaccgccgccgccgccgccgctcttcatgggcccataggaggactgatgctg06/06/0805/12/09131Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs78232709|allelePos=251|totalLen=501|taxid=9606|snpclass=2|alleles='-/GCT'|mol=Genomic|build=131
 GCAGCCTTAG AAGTGGCTCC CCCAAGGGCA AAACAGGGAA GGCGGTGTGT GTGAGGGGGT
 GGGGCTTAGG AGTTGACCCC ACTTGGGCTG TTGGAAAGAG CTACCCCTAT AGCCACTCCC
 AGGCATTTTA AATTTTCTTT TAGAAGGAGC TGCCTCCATA GCCACCCCCA CCGCCATAGC
 CGCCTCTGTA AGGTCCACTA TTACTGCGAC CGCCCCAGCT ACTGCCTCCA CCGCCGCCGC
 CGCCGCCGCT
 N
 CTTCATGGGC CCATAGGAGG ACTGATGCTG GCTGTAGCTG CCGAAGCCGC CGAAGCCGTT
 ACCGTAGTCG CTCCCACCGT AGGACGAACC GCCGCCGCCG CCTCCGTAGG CATTGTAGCC
 GCCGCCTCCG CCGCCGCCGT AACCACCGTA GCTGTTGTAA CCGCCGCCGC CGCCCTTGGA
 AAGGCCGTTC TGGTCTCGAC CACCGCCGCG CCCCCGGCCG CCTCGGCCGC CCCGGGAGGA
 TCGGGAGCCG

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

  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
UNKNOWNUNKNOWNUNKNOWN

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