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Reference SNP (refSNP) Cluster Report: rs35186579                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterWith1000GenomeData
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=0.2893/36333 (TOPMED)
HGVS Names
  • CM000666.2:g.744759G>C
  • NC_000004.11:g.738547G>C
  • NC_000004.12:g.744759G>C
  • NM_001317836.1:c.462+71G>C
  • NM_006315.5:c.462+71G>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 ss42221848 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35186579 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
ss42221848ABI|hCV25757705fwd/C/Gcgtggaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgctcgccgtg07/17/0507/17/05126Genomicunknown
ss80588843HGSV|Cor18507_SNV_20070510.chr4_728547fwd/C/Gcgtggaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcgccgtg11/23/0711/26/07130Genomicunknown
ss142630102ENSEMBL|ENSSNP4890023fwd/C/Gcgtggaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcgccgtg12/08/0810/16/09131Genomicunknown
ss4568212911000GENOMES|20101123_snps_2988521_chr4_738547fwd/C/Gcgtggaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcgccgtg07/20/1107/20/11135Genomicunknown
ss651001305SSMP|4_738547fwd/C/Gaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcg12/14/1202/10/15138Genomicunknown
ss979664623EVA-GONL|EVA-GONL_rs35186579fwd/C/Gaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcg04/23/1404/24/14142Genomicunknown
ss1922894592WEILL_CORNELL_DGM|SNV:chr4:738547fwd/C/Gaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcg10/16/1510/17/15147Genomicunknown
ss2150126522USC_VALOUEV|NC_000004.11:g.738547G>Cfwd/C/Gaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcg11/17/1611/17/16150Genomicunknown
ss2705561034GRF|rs35186579fwd/C/Gaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcg02/13/1702/13/17151Genomicunknown
ss3417999512TOPMED|TOPMed_freeze_5?chr4:744,759fwd/C/Gaggcgtgagcaggtgggcggggcccggggtcgctgcagtgttagtgttcg10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35186579|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 CCTTTGACGC TTACTCCGCT CCGGGGGTCC AGAGTCTCTT AATGGAGTGA ATTTTTGACG
 GCATTTGGAG TACAGTGTAG TTTTTTAAAT GGCTTGACAG TTTGGATTTC ATGGTGCGCT
 ATGTTCTGTT TGTGCTAAAA GGTGAAACCA AAGCAGACGA CAGTTCAAAC AAAGAGGCCG
 CGGAGGAGAA GCCGGAGGAG GACAACGACT ACCACCGCAG CGACGAGCAG GTGGGCGGGG
 CCCGGGGGTC GCTGCAGTGT TAGTGCTCGC CGTGGAGGCG TGAGCAGGTG GGCGGGGCCC
 S
 GGGGTCGCTG CAGTGTTAGT GCTCGCCGTG GAGGCGTGAG CAGGTGGGCG GGGCCCGGGG
 GTCGCTGCAG TGTTAGTGCT CCCCGTGGAG GCGTGAGCAG GTGGGCGGGG CCCGGGGGTC
 GCTGCAGTGT TAGTGCTCCC CGTGGAGGCG TGAGCAGGTG GGCGGGGCCC GGGGGTCGCT
 GCAGTGTTAG TGCTCTCCGT GGAGGCGTGA GCAGGTGGGC GGGGCCCGGG GGTCGCTGCA
 GTGTTAGTGC TCTCCGTGGA GGCGTGAGCA GGTGGGCGGG GCCCGGGGGT CGCTGCAGTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000004
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/G
HWPC
G
ss142630102ENSEMBL_Venter 2IG1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.500+/-00000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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