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Reference SNP (refSNP) Cluster Report: rs1805192                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:C:germline
G:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
NA
HGVS Names
  • CM000665.2:g.12379739C>G
  • NC_000003.11:g.12421238C>G
  • NC_000003.12:g.12379739C>G
  • NG_011749.1:g.96890C>G
  • NM_001330615.1:c.34C>G
  • NM_001354666.1:c.34C>G
  • NM_001354667.1:c.34C>G
  • NM_001354668.1:c.118C>G
  • NM_001354669.1:c.-400C>G
  • NM_001354670.1:c.34C>G
  • NM_005037.5:c.34C>G
  • NM_015869.4:c.118C>G
  • NM_138711.3:c.34C>G
  • NM_138712.3:c.34C>G
  • NP_001317544.1:p.Pro12Ala
  • NP_001341595.1:p.Pro12Ala
  • NP_001341596.1:p.Pro12Ala
  • NP_001341597.1:p.Pro40Ala
  • NP_001341599.1:p.Pro12Ala
  • NP_005028.4:p.Pro12Ala
  • NP_056953.2:p.Pro40Ala
  • NP_619725.2:p.Pro12Ala
  • NP_619726.2:p.Pro12Ala
  • XP_011532143.1:p.Pro12Ala
  • XP_011532144.1:p.Pro40Ala
  • XP_011532145.1:p.Pro40Ala
  • XP_011532146.1:p.Pro12Ala
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 ss48296479 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1805192 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
ss2667707HGBASE|SNP000002833fwd/TC/Gggttgacacagagatcgcattctggccaccaactttgggatcagctccgt11/08/0010/10/0389cDNAunknown
ss48296479SNP500CANCER|PPARG-01fwd/C/Gaccatggttgacacagagatgccattctggccaccaactttgggatcagctccgtggatc08/19/0509/12/05126Genomicunknown
ss263193823OMIM-CURATED-RECORDS|10179fwd/C/Gaccatggttgacacagagatgccattctggccaccaactttgggatcagctccgtggatc10/28/1010/28/10133Genomicunknown
ss1958537963ILLUMINA|3:12421238-C-G-0_T_F_2304234023fwd/C/Gggttgacacagagatgccattctggccaccaactttgggatcagctccgt11/13/1511/13/15147Genomicunknown
ss3022212475ILLUMINA|MEGA_Consortium_v2_15070954_A2_3:12421238-C-G-0_T_F_2304234023fwd/C/Gggttgacacagagatgccattctggccaccaactttgggatcagctccgt06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1805192|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 CAAAAAGGCA TTTATATGGA TACACTGTAT GTATCTGCAC TGTTTCAGGA TCCTCTATTA
 TGATACCTGG GTAAAGGGTG ACTTCCTTTC TATCAYAAAA CAGCCTAGAC AGCACTAAKA
 AGGTGGTTAT GTTCTTTTCT GTTGTTGTGA GCGCCCAGAT GAGATTACTT TGCCAAAGAC
 TCTTTTCATT TCTCTTTCTG AAACTCTGTG AGATTGCTGT GTTCTCTAGG ACTTAACTTC
 ACAGCTAGTC TATTTTTCCT TTCAGAAATG ACCATGGTTG ACACAGAGAT GCCATTCTGG
 S
 CCACCAACTT TGGGATCAGC TCCGTGGATC TCTCCGTAAT GGAAGACCAC TCCCACTCCT
 TTGATATCAA GCCCTTCACT ACTGTTGACT TCTCCAGCAT TTCTACTCCA CATTACGAAG
 ACATTCCATT CACAAGAACA GATCCAGTGG TTGCAGATTA CAAGTATGAC CTGAAACTTC
 AAGAGTACCA AAGTATGATG TTTATTTTCA CTTTTCAGAC TACTAGGACT AGAATTGGAC
 TCATCTCTCA GTAMCCCTGT AATAAATAAT GCTCCAGAGA CTAGAAATCT AATAGAGAAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517
dbSNP Blast Analysis
UniGene Cluster ID
162646
OMIM
601487.0002

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
HWPC
ss48296479P1 202GF1.00000000 1.00000000
CAUC1 62GF1.00000000 1.00000000
AFR1 48GF1.00000000 1.00000000
HISP1 46GF1.00000000 1.00000000
PAC1 46GF1.00000000 1.00000000
CABG_NORTHAMERICAN 724GF1.00000000 1.00000000
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0000

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

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