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Reference SNP (refSNP) Cluster Report: rs137852552                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/147
Map to Genome Build:107/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.00002/2 (ExAC)
HGVS Names
  • NC_000023.10:g.601772C>A
  • NC_000023.10:g.601772C>T
  • NC_000023.11:g.641037C>A
  • NC_000023.11:g.641037C>T
  • NC_000024.10:g.641037C>A
  • NC_000024.10:g.641037C>T
  • NC_000024.9:g.551772C>A
  • NC_000024.9:g.551772C>T
  • NG_009385.2:g.21694C>A
  • NG_009385.2:g.21694C>T
  • NM_000451.3:c.583C>A
  • NM_000451.3:c.583C>T
  • NM_006883.2:c.583C>A
  • NM_006883.2:c.583C>T
  • NP_000442.1:p.Arg195=
  • NP_000442.1:p.Arg195Ter
  • NP_006874.1:p.Arg195=
  • NP_006874.1:p.Arg195Ter
  • XR_247282.1:n.1274C>A
  • XR_247282.1:n.1274C>T
  • XR_247322.1:n.1274C>A
  • XR_247322.1:n.1274C>T
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 ss289480841 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs137852552 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
ss289480841OMIM-CURATED-RECORDS|8478fwd/BC/Tttgggcacagccaaccacctagacgcctgcgagtggcaccctacgtcaacatgggagcct01/06/1101/06/11133Genomicunknown
ss472343387CORRELAGEN|SHOX_583C_T_110310fwd/BC/Tttgggcacagccaaccacctagacgcctgcgagtggcaccctacgtcaacatgggagcct11/18/1111/22/11136Genomicunknown
ss491574392EXOME_CHIP|stopgl_290618_chr_X_601772fwd/BC/Tttgggcacagccaaccacctagacgcctgcgagtggcaccctacgtcaacatgggagcct03/05/1203/06/12137Genomicunknown
ss1694440350EVA_EXAC|EVA_EXAC_9936185fwd/C/Tcacagccaaccacctagacgcctgcgagtggcaccctacgtcaacatggg03/04/1503/04/15144Genomicunknown
ss1694440351EVA_EXAC|EVA_EXAC_9936186fwd/A/Ccacagccaaccacctagacgcctgcgagtggcaccctacgtcaacatggg03/04/1503/04/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs137852552|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=144
 GGGCTCTTCA CATCTCTCTC TGCTTCTCCC CAAGGTTTGG TTCCAGAACC GGAGAGCCAA
 GTGCCGCAAA CAAGAGAATC AGATGCATAA AGGTGGGTGT CGGGACTGGG GGGACCTGAA
 GCTGGGGGAT CCTGCTCCAG GAGGGATGGG GTCGACGAGG TGCTGGCTAC ACCCAGGACC
 ACCACACTGA CACCTGCTCC CTTTGGACAC AGGCGTCATC TTGGGCACAG CCAACCACCT
 AGACGCCTGC
 H
 GAGTGGCACC CTACGTCAAC ATGGGAGCCT TACGGATGCC TTTCCAACAG GTAGCTCACT
 TTTTCTTCCT CTGAAGATCC CTAGGGACCT GCTGCTCCCT TCCCCTTTCC CCTATTTGCT
 GCCGCATCCT GACACTCCTA GTCCCTCCCT GCCCCTGCAG ACTTCTCAGC TGGCCCTTAG
 AAAAAAAGCC TCTTTTCCGA GGAGGCATTT ACAGGCACCT TGGCACCTAT GAAATCAGGC
 TGGGCCAGGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
dbSNP Blast Analysis
OMIM
312865.0001

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
C
T
ss1694440350ExAc_Aggregated_Populations121411AF 0.999983550.00001647
ss1694440351ExAc_Aggregated_Populations121410AF 0.000008240.99999177

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0050000

  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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