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Reference SNP (refSNP) Cluster Report: rs193922466                 ** With Likely pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/142
Map to Genome Build:106/Weight
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely pathogenic allele [ClinVar]
MAF/MinorAlleleCount:NA
MAF Source:
HGVS Names
  • NC_000023.10:g.595422A>G
  • NC_000023.11:g.634687A>G
  • NC_000024.10:g.634687A>G
  • NC_000024.9:g.545422A>G
  • NG_009385.1:g.15344A>G
  • NM_000451.3:c.347A>G
  • NM_006883.2:c.347A>G
  • NP_000442.1:p.Lys116Arg
  • NP_006874.1:p.Lys116Arg
  • XR_247282.1:n.1038A>G
  • XR_247322.1:n.1038A>G
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 ss472343385 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs193922466 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
ss472343385CORRELAGEN|SHOX_347A_G_060111fwd/TA/Gcggaggacgaggacgggcagaccaagctgaacagaggcgcagccgcaccaacttcacgct11/18/1111/22/11136Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs193922466|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=136
 GGTTTTTGGG AAAGCAGCGA GTATCCTCCT CGGCTTTTGC CTTATGGACC CCACGCAGTT
 TTTGCGTCAA AGCGCATTGG TTTTCGAGGG CCCCCTTTCC ACCGCGGGAT GCACGAAGGG
 GTTCGCCACG TTGCGCAAAA CCTCCCCGGC CTCAGCCCTG TGCCCTCCGC TCCCCACGCA
 GGGATTTATG AATGCAAAGA GAAGCGCGAG GACGTGAAGT CGGAGGACGA GGACGGGCAG
 ACCAAGCTGA
 R
 ACAGAGGCGC AGCCGCACCA ACTTCACGCT GGAGCAGCTG AACGAGCTCG AGCGACTCTT
 CGACGAGACC CATTACCCCG ACGCCTTCAT GCGCGAGGAG CTCAGCCAGC GCCTGGGGCT
 CTCCGAGGCG CGCGTGCAGG TAGGAACCCG GGGGCGGGGG CGGGGGGCCC GGAGCCATCG
 CCTGGTCCTC GGGAGCGCAC AGCACGCGTA CAGCCACCTG CGCCCGGGCC GCCGCCGTCC
 CCTTCCCGGA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_006874  

  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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