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Reference SNP (refSNP) Cluster Report: rs3832694                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/TTG (REV)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:-=0.00002/2 (ExAC)
HGVS Names
  • CM000672.2:g.95037217_95037219delCAA
  • NC_000010.10:g.96796974_96796976delCAA
  • NC_000010.11:g.95037217_95037219delCAA
  • NG_007972.1:g.37279_37281delTTG
  • NM_000770.3:c.1382_1384delTTG
  • NM_001198853.1:c.1172_1174delTTG
  • NM_001198854.1:c.1076_1078delTTG
  • NM_001198855.1:c.1172_1174delTTG
  • NP_000761.3:p.Val461del
  • NP_001185782.1:p.Val391del
  • NP_001185783.1:p.Val359del
  • NP_001185784.1:p.Val391del
  • XR_001747030.1:n.1740_1742delTTG
  • XR_246073.1:n.1517_1519delTTG
  • XR_945610.1:n.1517_1519delTTG
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 ss5019201 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3832694 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
ss5019201YUSUKE|IMS-JST091412fwd/B-/TTGcaattttacagaactttaacctgaaatctgatgatttaaagaacctcaatactactgcag08/12/0210/10/03107Genomicunknown
ss1711945926EVA_EXAC|EVA_EXAC_5171873byFreqrev/-/CAAgtagtattgaggttctttaaatcatcagatttcaggttaaagttctgtaa03/04/1505/04/15144Genomicunknown
ss2710717640ILLUMINA|Consortium-OncoArray_15047405_A_rs3832694-131_P_R_1889936125rev/-/CAAgtagtattgaggttctttaaatcatcagatttcaggttaaagttctgtaa03/22/1703/22/17151Genomicunknown
ss2738422125GNOMAD|exomes_rs754717779rev/-/CAAgtagtattgaggttctttaaatcatcagatttcaggttaaagttctgtaa05/17/1705/17/17151Genomicunknown
ss2984920029AFFY|Axiom_PsorMich_Affx-52349202rev/-/CAAgtagtattgaggttctttaaatcatcagatttcaggttaaagttctgtaa05/24/1705/24/17151Genomicunknown
ss2985568323AFFY|Axiom_Smokesc1_Affx-52349202rev/-/CAAgtagtattgaggttctttaaatcatcagatttcaggttaaagttctgtaa05/24/1705/24/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3832694|allelePos=61|totalLen=121|taxid=9606|snpclass=2|alleles='-/TTG'|mol=Genomic|build=151
 CCCGCATGGA GCTATTTTTA TTTCTAACCA CAATTTTACA GAACTTTAAC CTGAAATCTG
 N
 ATGATTTAAA GAACCTCAAT ACTACTGCAG TTACCAAAGG GATTGTTTCT CTGCCACCCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008878.1
dbSNP Blast Analysis
UniGene Cluster ID
282871

  Population Diversity (Alleles in RefSNP orientation) Note: rs3832694 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWP-
TTG
ss1711945926ExAc_Aggregated_Populations121408AF 0.000016470.99998355

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

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

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