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Reference SNP (refSNP) Cluster Report: rs56011192                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.00002/3 (ExAC)
HGVS Names
  • CM000670.2:g.18400762C>T
  • NC_000008.10:g.18258272C>T
  • NC_000008.11:g.18400762C>T
  • NG_012246.1:g.14518C>T
  • NM_000015.2:c.759C>T
  • NP_000006.2:p.Val253=
  • XP_016868427.1:p.Val253=
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 ss75266942 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs56011192 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
ss75266942ILLUMINA|ILMN_Human_1M_SNP103fwd/BC/Tattcaattataaagacaatacagatctggtgagtttaaaactctcactgaggaagaggtt08/28/0708/29/07129Genomicunknown
ss105434766AFFY_DM3_1|DMET3B15009fwd/BC/Tattcaattataaagacaatacagatctggtgagtttaaaactctcactgaggaagaggtt09/03/0809/03/08130Genomicunknown
ss161033458ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP103-0_B_F_1514265379fwd/BC/Tattcaattataaagacaatacagatctggtgagtttaaaactctcactgaggaagaggtt08/04/0910/05/09131Genomicunknown
ss169135672ILLUMINA|Human1M-Duov3_B_SNP103-unknown_B_F_1514265379fwd/BC/Tattcaattataaagacaatacagatctggtgagtttaaaactctcactgaggaagaggtt10/01/0910/01/09132Genomicunknown
ss483025579ILLUMINA|HumanOmni1-Quad_v1-0_C_SNP103-0_B_F_1852975059fwd/BC/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag01/30/1208/28/15146Genomicunknown
ss537652737ILLUMINA|HumanOmni5-4v1_B_SNP103-0_B_F_1852975059fwd/BC/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag06/22/1208/29/15146Genomicunknown
ss1689107930EVA_EXAC|EVA_EXAC_4197351fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag03/04/1503/04/15144Genomicunknown
ss1946231120ILLUMINA|HumanCoreExome-12v1-0_C_SNP103-0_B_F_1852975059fwd/BC/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag10/29/1510/29/15147Genomicunknown
ss1959092416ILLUMINA|SNP103-0_B_F_1852975059fwd/BC/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag11/13/1511/13/15147Genomicunknown
ss2634717913ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SNP103-0_B_F_1852975059fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag02/02/1702/02/17151Genomicunknown
ss2711131680ILLUMINA|Consortium-OncoArray_15047405_A_rs56011192-131_T_R_1990299921fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag03/22/1703/22/17151Genomicunknown
ss2737016781GNOMAD|exomes_rs56011192fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag05/17/1705/17/17151Genomicunknown
ss2748005970GNOMAD|coding_rs56011192fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag05/17/1705/17/17151Genomicunknown
ss2863932628GNOMAD|rs56011192fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag05/19/1705/19/17151Genomicunknown
ss2985432622AFFY|Axiom_PsorMich_Affx-31859133fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag05/24/1705/24/17151Genomicunknown
ss2986074660AFFY|Axiom_Smokesc1_Affx-31859133fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag05/24/1705/24/17151Genomicunknown
ss3022824462ILLUMINA|MEGA_Consortium_v2_15070954_A2_SNP103-0_B_F_1852975059fwd/C/Tattataaagacaatacagatctggtgagtttaaaactctcactgaggaag06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs56011192|allelePos=61|totalLen=121|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TTTGGTGGGC TTCATCCTCA CCTATAGAAA ATTCAATTAT AAAGACAATA CAGATCTGGT
 Y
 GAGTTTAAAA CTCTCACTGA GGAAGAGGTT GAAGAAGTGC TGAGAAATAT ATTTAAGATT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1689107930ExAc_Aggregated_Populations121406AF 0.999975260.00002471

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0050000

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

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