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Reference SNP (refSNP) Cluster Report: rs112907722                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0001/11 (ExAC)
T=0.00008/10 (TOPMED)
HGVS Names
  • CM000663.2:g.25301685A>T
  • NC_000001.10:g.25628176A>T
  • NC_000001.11:g.25301685A>T
  • NG_007494.1:g.34196A>T
  • NM_001127691.2:c.800A>T
  • NM_001282867.1:c.302A>T
  • NM_001282868.1:c.800A>T
  • NM_001282869.1:c.800A>T
  • NM_001282870.1:c.800A>T
  • NM_001282871.1:c.800A>T
  • NM_001282872.1:c.800A>T
  • NM_001321772.1:c.-67+35355T>A
  • NM_016124.4:c.800A>T
  • NP_001121163.1:p.Lys267Met
  • NP_001269796.1:p.Lys101Met
  • NP_001269797.1:p.Lys267Met
  • NP_001269798.1:p.Lys267Met
  • NP_001269799.1:p.Lys267Met
  • NP_001269800.1:p.Lys267Met
  • NP_001269801.1:p.Lys267Met
  • NP_057208.2:p.Lys267Met
  • NR_135787.1:n.1215+35355T>A
  • NR_135788.1:n.277+36293T>A
  • NR_135789.1:n.1215+35355T>A
  • XP_005246016.1:p.Lys267Met
  • XP_005246017.1:p.Lys267Met
  • XP_005246018.1:p.Lys267Met
  • XP_005246019.1:p.Lys267Met
  • XP_005246020.1:p.Lys267Met
  • XP_016857504.1:p.Lys267Met
  • XR_946736.1:n.955A>T
  • XR_946737.1:n.955A>T
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 ss163999053 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs112907722 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
ss163999053COMPLETE_GENOMICS|NA07022_36_chr1_25500763fwd/A/Tccttggctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggcagcac09/28/0909/29/09132Genomicunknown
ss4539391491000GENOMES|20101123_snps_106379_chr1_25628176fwd/A/Tccttggctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggcagcac07/20/1107/20/11135Genomicunknown
ss491289443EXOME_CHIP|splice_5670_chr_1_25628176fwd/A/Tccttggctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggcagcac03/05/1203/05/12137Genomicunknown
ss1685398851EVA_EXAC|EVA_EXAC_194674fwd/A/Tgctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggc03/04/1503/04/15144Genomicunknown
ss2731264858GNOMAD|exomes_rs112907722fwd/A/Tgctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggc05/17/1705/17/17151Genomicunknown
ss2746262139GNOMAD|coding_rs112907722fwd/A/Tgctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggc05/17/1705/17/17151Genomicunknown
ss2752823017GNOMAD|rs112907722fwd/A/Tgctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggc05/17/1705/17/17151Genomicunknown
ss3071294171TOPMED|TOPMed_freeze_5?chr1:25,301,685fwd/A/Tgctcacccccaagggaagatcagcaggtgagcagggcgctgcccttgggc09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs112907722|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 CTAGGATTCT CATCCAAAAC CCCTCGAGGC TCAGACCTTT GGAGCAGGAG TGTGATTCTG
 GCCAACCACC CTCTCTGGCC CCCAGGCGCC CTCTTCTTGT GGATGTTCTG GCCAAGTTTC
 AACTCTGCTC TGCTGAGAAG TCCAATCGAA AGGAAGAATG CCGTGTTCAA CACCTACTAT
 GCTGTAGCAG TCAGCGTGGT GACAGCCATC TCAGGGTCAT CCTTGGCTCA CCCCCAAGGG
 AAGATCAGCA
 W
 GGTGAGCAGG GCGCTGCCCT TGGGCAGCAC TTGGGTCTAA CAGGACTAGC ACACATATTT
 ATGCCCCTCC CCACCCCAGG GCCAGCGTGG GTTGGGAGAG GGCATGCCGG GTGGTGGAGC
 TGTGCCTGCC TCTACAGTGG AGCTCTAGGT AGAATGCTGG GTGGTCACAG TGGGCCTGGG
 ACTCAGGAGA CTGTCCAGTG ATCAAAGGCT TTCTGGGGGT AGTGATTAAA TCCATCCATG
 CTAACATGAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_001121163  NP_057208  

  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.
SourceA/T
HWPA
T
ss163999053CEUEuropean 2IG1.00000000 0.500000000.50000000
ss1685398851ExAc_Aggregated_Populations111956AF 0.999901770.00009825

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0100000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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