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dbSNP
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Reference SNP (refSNP) Cluster Report: rs1041946                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byFreq
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=0.00009/11 (ExAC)
HGVS Names
  • CM000667.2:g.228281G>C
  • NC_000005.10:g.228281G>C
  • NC_000005.9:g.228396G>C
  • NG_012339.1:g.15041G>C
  • NM_001294332.1:c.574G>C
  • NM_001330758.1:c.718G>C
  • NM_004168.3:c.718G>C
  • NP_001281261.1:p.Glu192Gln
  • NP_001317687.1:p.Glu240Gln
  • NP_004159.2:p.Glu240Gln
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 ss1508771 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1041946 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
ss1508771LEE|193fwd/TC/Ggagtgccgtggtgtcatcgcactgtgcataaggacgggtccatccatcgcataagagcaa09/13/0010/10/0386cDNAunknown
ss4403196LEE|e193fwd/TC/Ggagtgccgtggtgtcatcgcactgtgcataaggacgggtccatccatcgcataagagcaa04/26/0210/10/03106cDNAunknown
ss1687725361EVA_EXAC|EVA_EXAC_2705667fwd/C/Gccgtggtgtcatcgcactgtgcataaggacgggtccatccatcgcataag03/04/1503/04/15144Genomicunknown
ss2734871336GNOMAD|exomes_rs1041946fwd/C/Gccgtggtgtcatcgcactgtgcataaggacgggtccatccatcgcataag05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1041946|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='C/G'|mol=cDNA|build=151
 ATCTCCTGAT GGAGAACGGG GAGTGCCGTG GTGTCATCGC ACTGTGCATA
 S
 AGGACGGGTC CATCCATCGC ATAAGAGCAA AGAACACTGT TGTTGCCACA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
H09364 Hs.469
dbSNP Blast Analysis
UniGene Cluster ID
440475
3D structure mapping
NP_004159  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
G
ss1687725361ExAc_Aggregated_Populations121412AF 0.000115310.99988467

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0100000

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