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dbSNP
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Reference SNP (refSNP) Cluster Report: rs200584816                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0010/103 (ExAC)
C=0.0002/1 (1000 Genomes)
C=0.00005/6 (TOPMED)
HGVS Names
  • CM000663.2:g.939429G>C
  • NC_000001.10:g.874809G>C
  • NC_000001.11:g.939429G>C
  • NM_152486.2:c.675G>C
  • NP_689699.2:p.Trp225Cys
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 ss488646433 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs200584816 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
ss4886464331000GENOMES|20110521_exome_29_chr1_874809fwd/C/Gcctccccagccacggtgaggacccaccctgcatgatccccctcatcacctccccagccac02/10/1202/13/12137Genomicunknown
ss491283805EXOME_CHIP|nonsyn_32_chr_1_874809fwd/C/Gcctccccagccacggtgaggacccaccctgcatgatccccctcatcacctccccagccac03/05/1203/05/12137Genomicunknown
ss12893429821000GENOMES|PHASE3_V1_7902fwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca08/16/1408/16/14142Genomicunknown
ss1584003544EVA_FINRISK|EVA_FINRISK_rs200584816fwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca02/27/1502/27/15144Genomicunknown
ss1685217580EVA_EXAC|EXAC_0.3.1:g874809g>cfwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca03/04/1503/04/15144Genomicunknown
ss2159371592HUMAN_LONGEVITY|HLI-1-939429-G-Cfwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca11/18/1611/18/16150Genomicunknown
ss2730987287GNOMAD|exomes_rs200584816fwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca05/17/1705/17/17151Genomicunknown
ss2746169590GNOMAD|coding_rs200584816fwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca05/17/1705/17/17151Genomicunknown
ss2750650566GNOMAD|rs200584816fwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca05/17/1705/17/17151Genomicunknown
ss2984841012AFFY|Axiom_PsorMich_Affx-52127317fwd/C/Gccagccacggtgaggacccaccctgcatgatccccctcatcacctcccca05/24/1705/24/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs200584816|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 TCGGCAGTGC CTGGAGAAAC CTCTCACCCC GGGTCCTCCC CAGCAGAGGC GCTGCTGCTG
 CCGCGGGAGC TGGGGCCCAG CATGGCCCCG GAGGACCATT ACCGCCGGCT TGTGTCAGCA
 CTGAGCGAGG CCAGCACCTT TGAGGACCCT CAGCGCCTCT ACCACCTGGG CCTCCCCAGC
 CACGGTGAGG ACCCACCCTG
 S
 CATGATCCCC CTCATCACCT CCCCAGCCAC GGTGAGGACC CACCCTGGCA TGATCTCCCC
 TCATCACCTC CCCAGCCACA TGTACTCGGC CATTCCTGTT GCTGAGGCCC TGCTGACACC
 AAGGCCAGGC TGGATGCAGG TCCCTCTGCC ACACGTCCTG CCCCATGCCC CCTGGGGCGG
 GCCACACCTC CATGTCCCCT

  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.
SourceHWPC
G
ss1289342982EAS 1008AF 1.00000000
EUR 1006AF 0.001000000.99900001
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685217580ExAc_Aggregated_Populations110198AF 0.000970980.99902904

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.0310000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN