NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs76326034                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.00004/5 (ExAC)
C=0.0004/2 (1000 Genomes)
C=0.00002/3 (TOPMED)
HGVS Names
  • CM000663.2:g.10433931T>C
  • NC_000001.10:g.10493988T>C
  • NC_000001.11:g.10433931T>C
  • NM_001243768.1:c.113-726T>C
  • NM_001270517.1:c.141T>C
  • NM_198544.3:c.141T>C
  • NM_199006.2:c.141T>C
  • NM_199294.2:c.141T>C
  • NP_001257446.1:p.Ile47=
  • NP_940946.1:p.Ile47=
  • NP_950171.2:p.Ile47=
  • NP_954988.1:p.Ile47=
  • NR_036462.1:n.745T>C
  • NR_037187.1:n.655+2530T>C
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 ss217390851 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs76326034 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
ss102719010BGI|BGI_YHSNP0130055fwd/BC/Tcaaagagatgcagttcagcaaacagaccatgcggccatttcggagctgactttccgacag06/04/0806/16/09131Genomicunknown
ss2173908511000GENOMES|pilot_3_CHB_12_chr1_10416575byFreqfwd/BC/Tcaaagagatgcagttcagcaaacagaccatgcggccatttcggagctgactttccgacag04/09/1009/05/14132Genomicunknown
ss4886513351000GENOMES|20110521_exome_2489_chr1_10493988fwd/BC/Tcaaagagatgcagttcagcaaacagaccatgcggccatttcggagctgactttccgacag02/10/1202/13/12137Genomicunknown
ss12896593731000GENOMES|PHASE3_V1_336630fwd/C/Tagatgcagttcagcaaacagaccatgcggccatttcggagctgactttcc08/16/1408/16/14142Genomicunknown
ss1685292589EVA_EXAC|EVA_EXAC_81273fwd/C/Tagatgcagttcagcaaacagaccatgcggccatttcggagctgactttcc03/04/1503/04/15144Genomicunknown
ss2731103643GNOMAD|exomes_rs76326034fwd/C/Tagatgcagttcagcaaacagaccatgcggccatttcggagctgactttcc05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs76326034|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GCGCCAGAGG GATTGGGCTG AGCAGACCCT CTCCTTGGTC TTCATTTTTT AAGGCGTGAA
 AAGCTCTTAT TTGCAGCCTT ACCCGTGAAA TATTTTGATG TTTTTCCCCA GAGGCTAAAG
 GCAGCAGTTC ACTATACTGT GGGTTGTCTT TGCGAGGAAG TTGCATTGGA CAAAGAGATG
 CAGTTCAGCA AACAGACCAT
 Y
 GCGGCCATTT CGGAGCTGAC TTTCCGACAG TGTGGTATGA AGCTTCGGCC TCCCCAGCCA
 TGTCTGTAAA CCCCAAAGGT TGATTTCACC TGGGAGCAGT GCGTGGGTGG GAGCTGTGGC
 GAGTCTGACC AGCAGACCAA GAATATTATC ATCCTCATGC GTTCTTCGTG AAACACTTCT
 CTTCTTGGCT GTGAGATGTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_940946  NP_950171  

  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
T
ss1289659373EAS 1008AF 0.002000000.99800003
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685292589ExAc_Aggregated_Populations121412AF 0.000041180.99995881
ss217390851pilot_3_CHB_exon_capture_panel 218AF 0.009174310.99082571

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0060000

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