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Reference SNP (refSNP) Cluster Report: rs398111951                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:138/150
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.00003/1 (TOPMED)
HGVS Names
  • NC_000007.13:g.139532219_139532220insA
  • NC_000007.14:g.139832420_139832421insG
  • NG_008422.2:g.59039_59040insA
  • NG_008422.2:g.59039_59040insG
  • NM_001061.4:c.92+2941_92+2942insA
  • NM_001061.4:c.92+2941_92+2942insG
  • NM_001130966.2:c.92+2941_92+2942insA
  • NM_001130966.2:c.92+2941_92+2942insG
  • NM_001166253.1:c.92+2941_92+2942insA
  • NM_001166253.1:c.92+2941_92+2942insG
  • NM_001166254.1:c.-112-39815_-112-39814insA
  • NM_001166254.1:c.-112-39815_-112-39814insG
  • NM_001314028.1:c.3+2941_3+2942insA
  • NM_001314028.1:c.3+2941_3+2942insG
  • NM_030984.3:c.92+2941_92+2942insA
  • NM_030984.3:c.92+2941_92+2942insG
  • NR_029394.1:n.327+2941_327+2942insA
  • XM_011516544.2:c.92+2941_92+2942insG
  • XM_017012569.1:c.3+2941_3+2942insG
  • XM_017012570.1:c.92+2941_92+2942insG
  • XM_017012571.1:c.92+2941_92+2942insG
  • XM_017012572.1:c.92+2941_92+2942insG
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 ss287822102 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs398111951 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
ss287822102GMI|GMI_NA10851_INDEL_155111fwd/-/Aactgaatccaacaaagacaaagaaaaaaaataaaaaaatatgaacaaagcctccaagaag04/26/1012/21/10138Genomicunknown
ss2467960989TOPMED|7_139532219_A/AGfwd/-/Gatccaacaaagacaaagaaaaaaaataaaaaaatatgaacaaagcctcca11/20/1611/20/16150Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs398111951|allelePos=501|totalLen=1001|taxid=9606|snpclass=2|alleles='-/G'|mol=Genomic|build=150
 GACTCTGTTT CAAACAAAAC AAAACAAAAC AAAACAGAAG GATGGGAGGA TGGAGGGAAT
 CATGGTGGAC AGGAGGCAGG ACTAGACTGC AGCTCCAGAC AAAGCAGCAT CTGGAAGCTT
 CCATGGTGAA TTTTAGCTCC AGATCAACTG CAAGAATAAA TCAGCAATTC TGAGGGGACC
 CACAGACCCT CTGAAGGAAG CGGATTGCTC CTGTAGGGCC CAGAAGACAC CCCAAATACT
 GTGAGTGCCC CAACTGCGGA AGTGGGAAAG GGAGACCCTC CTCTCCCAAC ACACTCCCCC
 AATTTGAGTG GGAGAAATAT TCAATGAAAT AGATAGCTTA AAGAAAAAAC AATAGAAAAT
 TCAGGAAACT TTGGACACAC TTTTAGAAAT GTGAAATGCT CTGGAAAGTC TCAGCAATAG
 AACAAGTAGA AGAAGGAAAT TCAGAGCTCA AAGACAAGGT CTTTGAATTA ACTGAATCCA
 ACAAAGACAA AGAAAAAAAA
 N
 TAAAAAAATA TGAACAAAGC CTCCAAGAAG TCTGGGATTA TGTTAAATGA CCAAACCTAA
 GAATAATTGG TGTTCCTGAG GAAGAAGAGA ATTCTAAAAG CTTGCAAAAC ATATTTGGGG
 GAATAATCAA GGAAAAGTTC CCCAGTCTAG CTAGAGACCT AGACATCCAA ATACAAGAAG
 CACAAAGAAC ACGTGGGAAA TTCATCGCAA AAAGATCTTT GCCTAGGCAC ATTGTCATCA
 GGTTATCCAG AGTTGAGACA AAGGAAAGAA TCTTAAGAGT TGTGAGACAG AAGAACCAGG
 TAACCTATAA AGGAAAACCT ATCAGATGAA CTGAAGATTT CTCAGCTGAA ACCCTACAAG
 CTAGAAGGGA TTGGGGCCCT GTCTTCCAGC TTCTCAAACA AATCAATTAT CAGCCAAGAA
 TGTTGTATCC AGTGAAACTA AGCATCATGT ATGAAGGAAA GATACAGTCG TTTTCAGACA
 AACAAATGCT GAGAGAATTG

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

  Population Diversity (Alleles in RefSNP 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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