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dbSNP
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Reference SNP (refSNP) Cluster Report: rs114336504                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.00003/3 (ExAC)
A=0.0004/2 (1000 Genomes)
A=0.00005/6 (TOPMED)
HGVS Names
  • CM000663.2:g.7777273G>A
  • CM000663.2:g.7777273G>C
  • NC_000001.10:g.7837333G>A
  • NC_000001.10:g.7837333G>C
  • NC_000001.11:g.7777273G>A
  • NC_000001.11:g.7777273G>C
  • NM_004781.3:c.186G>A
  • NM_004781.3:c.186G>C
  • NP_004772.1:p.Thr62=
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 ss217410504 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs114336504 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
ss2174105041000GENOMES|pilot_3_TSI_15_chr1_7759920fwd/TA/Gactgcaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaatattgg04/09/1004/09/10132Genomicunknown
ss3283978271000GENOMES|20100804_snps_41363_chr1_7837333fwd/A/Gactgcaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaatattgg03/22/1103/22/11134Genomicunknown
ss4897183051000GENOMES|20110521_exome_293235_chr1_7837333fwd/TA/Gactgcaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaatattgg02/10/1202/21/12137Genomicunknown
ss12895825771000GENOMES|PHASE3_V1_256287fwd/A/Gaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaat08/16/1408/16/14142Genomicunknown
ss1685278090EVA_EXAC|EVA_EXAC_65666fwd/C/Gaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaat03/04/1503/04/15144Genomicunknown
ss1685278091EVA_EXAC|EVA_EXAC_65667fwd/A/Gaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaat03/04/1503/04/15144Genomicunknown
ss2731082281GNOMAD|exomes_rs114336504fwd/A/C/Gaggcaggcgcttctcaatttgaaacagcgcagccaagttgaagaggaaat05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs114336504|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 AGTGCTAGGA TTACAGGCGT GAGCCACCGC ACCTGGCCCT GTTCCTCCAT TCTTTGTGCA
 TTACTTGCTG TGATCACACT CATCTAGGTG GTGGACATAA TGCGAGTTAA CGTGGACAAG
 GTTCTGGAAA GAGACCAGAA GCTCTCTGAG TTAGACGACC GTGCAGACGC ACTGCAGGCA
 GGCGCTTCTC AATTTGAAAC
 V
 AGCGCAGCCA AGTTGAAGAG GAAATATTGG TGGAAGAATT GCAAGGTAAT TATCTTTTAA
 CTGACCTTTA CATTTAACCC CCCTTCTCCA TTCTCAGAGA ATTAACAGGC TACAGATAAT
 GGACTTTCAC GACTCTGGGA GGTGGGTTTG ACTTCCTCCA CATGGAAATG TGGGTCCACT
 GTGAATCCGA AACACTGACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_004772  

  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
C
G
ss1289582577EAS 1008AF 1.00000000
EUR 1006AF 0.00100000 0.99900001
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.00100000 0.99899995
ss1685278090ExAc_Aggregated_Populations121409AF 0.000024710.99997526
ss1685278091ExAc_Aggregated_Populations121409AF 0.00002471 0.99997526
ss217410504pilot_3_TSI_exon_capture_panel 130AF 0.00769231 0.99230766

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0070000

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