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dbSNP
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Reference SNP (refSNP) Cluster Report: rs201326364                 
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:A/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0001/6 (ExAC)
A=0.0004/2 (1000 Genomes)
A=0.00002/3 (TOPMED)
HGVS Names
  • CM000663.2:g.930354G>A
  • CM000663.2:g.930354G>T
  • NC_000001.10:g.865734G>A
  • NC_000001.10:g.865734G>T
  • NC_000001.11:g.930354G>A
  • NC_000001.11:g.930354G>T
  • NM_152486.2:c.254+18G>A
  • NM_152486.2:c.254+18G>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 ss487561407 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs201326364 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
ss4875614071000GENOMES|20110521_exome_8_chr1_865734fwd/TA/Gtcatgaagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatggggct02/10/1202/13/12137Genomicunknown
ss12893425481000GENOMES|PHASE3_V1_7444fwd/A/Gaagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatg08/16/1408/16/14142Genomicunknown
ss1685217325EVA_EXAC|EXAC_0.3.1:g865734g>afwd/A/Gaagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatg03/04/1503/04/15144Genomicunknown
ss1685217326EVA_EXAC|EXAC_0.3.1:g865734g>tfwd/G/Taagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatg03/04/1503/04/15144Genomicunknown
ss2730986947GNOMAD|exomes_rs201326364fwd/A/G/Taagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatg05/17/1705/17/17151Genomicunknown
ss2746169462GNOMAD|coding_rs201326364fwd/A/Gaagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatg05/17/1705/17/17151Genomicunknown
ss2750649392GNOMAD|rs201326364fwd/A/Gaagagaaggtacttggaccagggccgacaggaaggcgcaaggctcagatg05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs201326364|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 GAACCGGGGG CGGCTGGCAG ACAAGAGGAC AGTCGCCCTG CCTGCCGCCC GGAACCTGAA
 GAAGGAGCGA ACTCCCAGCT TCTCTGCCAG CGATGGTGAC AGCGACGGGA GTGGCCCCAC
 CTGTGGGCGG CGGCCAGGCT TGAAGCAGGA GGATGGTCCG CACATCCGTA TCATGAAGAG
 AAGGTACTTG GACCAGGGCC
 D
 GACAGGAAGG CGCAAGGCTC AGATGGGGCT GGAGCTTCAG GCCTTCAGCT GCTCAGATGA
 GAGTGTCCAC ACCGGCCTCC CACACCTTCC CTCAGATGCT GGTCTTTTTG GGGTCCTGTG
 TGGGTCGCAG GCAGGAGCTG TTTCCTCATC TGCCCCCTGT CTGGCGTCCC CTCCCACCTC
 TGCTCTGCGG CGCTCACTGG

  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
T
ss1289342548EAS 1008AF 0.001000000.99900001
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.001000000.99899995
ss1685217325ExAc_Aggregated_Populations120202AF 0.000083190.99991679
ss1685217326ExAc_Aggregated_Populations120194AF 0.999983370.00001664

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0110000

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