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Reference SNP (refSNP) Cluster Report: rs193922445                 ** With Likely pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/150
Map to Genome Build:108/Weight 1
Validation Status:
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/G (FWD)
Allele Origin:-:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic allele [ClinVar]
NA
HGVS Names
  • NC_000023.10:g.37663372_37663373insG
  • NC_000023.10:g.37663372dupG
  • NC_000023.11:g.37804119_37804120insG
  • NC_000023.11:g.37804119dupG
  • NG_009065.1:g.29103_29104insG
  • NG_009065.1:g.29103dupG
  • NM_000397.3:c.1140_1141insG
  • NM_000397.3:c.1140dupG
  • NP_000388.2:p.Lys381Glufs
  • NW_003871099.1:g.515925_515926insG
  • NW_003871099.1:g.515925dupG
  • XM_005272588.1:c.1044_1045insG
  • XM_005272588.1:c.1044dupG
  • XP_005272645.1:p.Lys349Glufs
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 ss472343350 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs193922445 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
ss472343350CORRELAGEN|CYBB_1140dupG_111510fwd/-/Gtgtgataagcaggagtttcaagatgcgtggaaactacctaagtgagtaaaaagtacatat11/18/1111/22/11136Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs193922445|allelePos=251|totalLen=501|taxid=9606|snpclass=2|alleles='-/G'|mol=Genomic|build=136
 TCTATAGGTG GTCACTCACC CTTTCAAAAC CATCGAGCTA CAGATGAAGA AGAAGGGGTT
 CAAAATGGAA GTGGGACAAT ACATTTTTGT CAAGTGCCCA AAGGTGTCCA AGCTGGAGTG
 GCACCCTTTT ACACTGACAT CCGCCCCTGA GGAAGACTTC TTTAGTATCC ATATCCGCAT
 CGTTGGGGAC TGGACAGAGG GGCTGTTCAA TGCTTGTGGC TGTGATAAGC AGGAGTTTCA
 AGATGCGTGG
 N
 AAACTACCTA AGTGAGTAAA AAGTACATAT TACCAACGTA TATGAGTTCA GGAAAAATGG
 CACTAAATAG CTCCTCTTCC TCCATGTTTT ACTAAGTCTC CAACAAAACA CACAGGTTCT
 AAGAATATAG GTAGCTATTT CTGTGGTCAC CGTTTCATAT GTGTAGTGTG TTTATGCATA
 TTTTCATAAA TCTTATGTGA AATATGAAAA CCTTGAATCA AATATTAGAA ATAAATACTC
 CCAAATTCCT

  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
UNKNOWNUNKNOWNUNKNOWN

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