NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs111033179                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/149
Map to Genome Build:108/Weight
Validation Status:byCluster
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
NA
HGVS Names
  • NC_012920.1:m.1005T>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 ss244316781 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs111033179 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
ss244316781LMM-PCPGM|6203149fwd/BC/Taaaactcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtggcttt06/15/1006/15/10132Genomicunknown
ss491581290EXOME_CHIP|mitoch_297516_chr_MT_1005fwd/BC/Taaaactcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtggcttt03/05/1203/06/12137Genomicunknown
ss780786478ILLUMINA|HumanOmni25Exome-8v1_A_exm2216202-0_B_F_1955482163fwd/BC/Ttcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtg05/30/1307/09/15147Genomicunknown
ss783467064ILLUMINA|HumanOmniExpressExome-8v1_A_exm2216202-0_B_F_1955482163fwd/BC/Ttcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtg05/31/1306/19/15147Genomicunknown
ss1752791108ILLUMINA|OmniExpressExome-8v1-1_B_exm2216202-0_B_F_1955482163fwd/BC/Ttcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtg05/27/1506/09/15147Genomicunknown
ss1917715354ILLUMINA|HumanExome-12v1-1_B_exm2216202-0_B_F_1955482163fwd/BC/Ttcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtg10/16/1510/16/15147Genomicunknown
ss1945966284ILLUMINA|HumanCoreExome-12v1-0_C_exm2216202-0_B_F_1955482163fwd/BC/Ttcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtg10/29/1510/29/15147Genomicunknown
ss1958161090ILLUMINA|exm2216202-0_B_F_1955482163fwd/BC/Ttcacctgagttgtaaaaaactccagtgacacaaaatagactacgaaagtg11/13/1511/13/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs111033179|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=147
 GCATCAAGCA CGCAGCAATG CAGCTCAAAA CGCTTAGCCT AGCCACACCC CCACGGGAAA
 CAGCAGTGAT TAACCTTTAG CAATAAACGA AAGTTTAACT AAGCTATACT AACCCCAGGG
 TTGGTCAATT TCGTGCCAGC CACCGCGGTC ACACGATTAA CCCAAGTCAA TAGAAGCCGG
 CGTAAAGAGT GTTTTAGATC ACCCCCTCCC CAATAAAGCT AAAACTCACC TGAGTTGTAA
 AAAACTCCAG
 Y
 TGACACAAAA TAGACTACGA AAGTGGCTTT AACATATCTG AACACACAAT AGCTAAGACC
 CAAACTGGGA TTAGATACCC CACTATGCTT AGCCCTAAAC CTCAACAGTT AAATCAACAA
 AACTGCTCGC CAGAACACTA CGAGCCACAG CTTAAAACTC AAAGGACCTG GCGGTGCTTC
 ATATCCCTCT AGAGGAGCCT GTTCTGTAAT CGATAAACCC CGATCAACCT CACCACCTCT
 TGCTCAGCCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000025
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top
There is no frequency data.

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement