NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs777038595                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:144/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/GAGA (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:GAGA=0.1743/214 (ExAC)
GAGA=0.0906/11380 (TOPMED)
HGVS Names
  • CM000663.2:g.13417_13418insGAGA
  • NC_000001.10:g.13417_13418insGAGA
  • NC_000001.11:g.13417_13418insGAGA
  • NR_046018.2:n.660_661insGAGA
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 ss1573866501 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs777038595 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
ss1573866501EVA_GENOME_DK|gatk.1:g13417c>cgagafwd/-/GAGActttccctagagcctccaccaccccgagatcacatttctcactgcctttt02/19/1502/19/15144Genomicunknown
ss1711595246EVA_EXAC|EXAC_0.3.1:g13417c>cgagafwd/-/GAGActttccctagagcctccaccaccccgagatcacatttctcactgcctttt03/04/1501/09/17144Genomicunknown
ss1751134590PADH-LAB_SPU|batch1_INS1fwd/-/GAGActttccctagagcctccaccaccccgagatcacatttctcactgcctttt03/25/1505/22/15146Genomicunknown
ss1997003394TMC_SNPDB|chr113417CCGAGAfwd/-/GAGActttccctagagcctccaccaccccgagatcacatttctcactgcctttt05/19/1605/19/16147Genomicunknown
ss2137518298AFFY|Axiom_PsorMich_Affx-52345991fwd/-/GAGActttccctagagcctccaccaccccgagatcacatttctcactgcctttt05/24/1705/24/17151Genomicunknown
ss2986141259SWEGEN|NC_000001.10:g.13417_13418insGAGAfwd/-/GAGActttccctagagcctccaccaccccgagatcacatttctcactgcctttt05/30/1705/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs777038595|allelePos=26|totalLen=51|taxid=9606|snpclass=2|alleles='-/GAGA'|mol=Genomic|build=151
 CTTTCCCTAG AGCCTCCACC ACCCC
 N
 GAGATCACAT TTCTCACTGC CTTTT

  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-
GAGA
ss1711595246ExAc_Aggregated_Populations 20330AF 0.932611880.06738809

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.288+/-0.2470000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqUNKNOWNUNKNOWNUNKNOWN