NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs201258017                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.00002/1 (ExAC)
A=0.0002/1 (1000 Genomes)
HGVS Names
  • CM000663.2:g.939277G>A
  • NC_000001.10:g.874657G>A
  • NC_000001.11:g.939277G>A
  • NM_152486.2:c.523G>A
  • NP_689699.2:p.Ala175Thr
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 ss487561444 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs201258017 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
ss4875614441000GENOMES|20110521_exome_23_chr1_874657fwd/TA/Gacctctcaccccgggtcctccccagcagagcgctgctgctgccgcgggagctggggccca02/10/1202/13/12137Genomicunknown
ss12893429711000GENOMES|PHASE3_V1_7891fwd/A/Gtcaccccgggtcctccccagcagagcgctgctgctgccgcgggagctggg08/16/1408/16/14142Genomicunknown
ss1685217526EVA_EXAC|EXAC_0.3.1:g874657g>afwd/A/Gtcaccccgggtcctccccagcagagcgctgctgctgccgcgggagctggg03/04/1503/04/15144Genomicunknown
ss2730987228GNOMAD|exomes_rs201258017fwd/A/Gtcaccccgggtcctccccagcagagcgctgctgctgccgcgggagctggg05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs201258017|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TATCAGCAGC GACTGCTTTT CAGAGAAGAG GGCACGAAGC GAATCGCCTC AAGGTAAGAG
 CGTGGCTGGG ACGAGAGACA GGTCACCAGG GGAGGGGGCA GTCCCTGAGG GTCCCCTGGA
 CCTCGAGCAG GCACTCTAGA GGGGCGTGGT CCTCGGCAGT GCCTGGAGAA ACCTCTCACC
 CCGGGTCCTC CCCAGCAGAG
 R
 CGCTGCTGCT GCCGCGGGAG CTGGGGCCCA GCATGGCCCC GGAGGACCAT TACCGCCGGC
 TTGTGTCAGC ACTGAGCGAG GCCAGCACCT TTGAGGACCC TCAGCGCCTC TACCACCTGG
 GCCTCCCCAG CCACGGTGAG GACCCACCCT GGCATGATCC CCCTCATCAC CTCCCCAGCC
 ACGGTGAGGA CCCACCCTGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1289342971EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.000800000.99919999
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685217526ExAc_Aggregated_Populations120634AF 0.000016580.99998343

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
byClusterWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN