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Reference SNP (refSNP) Cluster Report: rs34326929                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/141
Map to Genome Build:106/Weight
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:C
Clinical Channel:unknown
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.001/2
MAF Source:1000 Genomes
HGVS Names
  • NC_000016.10:g.56608474C>A
  • NM_005953.3:c.-182C>A
  • NT_010498.16:g.10227792C>A
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence 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 ss50393098 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34326929 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
ss50393098EGP_SNPS|MT2A-001809fwd/TA/Cgtgcgcgcggccgggtgtttcgcctggagcgcaagtgactcagcgcggggcgtgtgcagg01/26/0601/26/06126Genomicunknown
ss4645951581000GENOMES|20101123_snps_10762388_chr16_56642386fwd/A/Cgtgcgcgcggccgggtgtttcgcctggagcgcaagtgactcagcgcggggcgtgtgcagg07/20/1107/20/11135Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34326929|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=135
 GCTTTCACCC GCGCGCTAAC GGCTCAGGTT CGAGTACAGG ACAGGAGGGA GGGGAGCTGT
 GCACACGGCG GAGGCGCACG GCGTGGGCAC CCAGCACCCG GTACACTGTG TCCTCCCGCT
 GCACCCAGCC CCTTCCGCGC CGAGGCGTCC CCGAGGCGCA AGTGGGCCGC CTTCAGGGAA
 CTGACCGCCC GCGGCCCGTG TGCAGAGCCG GGTGCGCCCG GCCCAGTGCG CGCGGCCGGG
 TGTTTCGCCT GGAGC
 M
 GCAAGTGACT CAGCGCGGGG CGTGTGCAGG CAGCGCCCGG CCGGGGCGGG GCTTTTGCAC
 TCGTCCCGGC TCTTTCTAGC TATAAACACT GCTTGCCGCG CTGCACTCCA CCACGCCTCC
 TCCAAGTCCC AGCGAACCCG CGTGCAACCT GTCCCGACTC TAGCCGCCTC TTCAGCTCGC
 CATGGATCCC AACTGCTCCT GCGCCGCCGG TAAGAGGCTG GGGATGCCCA GTGTAGACTG
 TAGCGCTAGA GAAGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000016
dbSNP Blast Analysis

  Population Diversity (in rs orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/C
C/C
HWPA
C
ss50393098EGP_YORUB-PANELSub-Saharan African 22IG 1.000 1.000
EGP_HISP-PANELHispanic 44IG 1.000 1.000
EGP_CEPH-PANELEuropean 44IG 1.000 1.000
EGP_AD-PANELAfrican American 24IG 0.083 0.917 1.000 0.042 0.958
EGP_ASIAN-PANELAsian 48IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.030959500

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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