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dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs112666302                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
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
NA
HGVS Names
  • CM000668.2:g.32837813G>C
  • NC_000006.11:g.32805590G>C
  • NC_000006.12:g.32837813G>C
  • NG_009793.3:g.5958C>G
  • NM_000544.3:c.421C>G
  • NM_001290043.1:c.421C>G
  • NM_018833.2:c.421C>G
  • NP_000535.3:p.Leu141Val
  • NP_001276972.1:p.Leu141Val
  • NP_061313.2:p.Leu141Val
  • NT_113891.2:g.4250118G>C
  • NT_113891.3:g.4250012G>C
  • NT_167244.2:g.4142679G>C
  • NT_167245.2:g.4081384G>C
  • NT_167246.2:g.4257165G>C
  • NT_167247.1:g.4142468G>C
  • NT_167247.2:g.4136883G>C
  • NT_167248.2:g.4032100G>C
  • NT_167249.2:g.4237067G>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 ss201654787 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs112666302 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
ss159846005ILLUMINA|HumanOmni1-Quad_v1-0_B_401753-0_B_F_1526882052fwd/C/Gatgaaaaataacacaagaatgtgctggtgccaggcccttttaccacctccaactcacaac08/04/0910/01/09149Genomicunknown
ss201654787BUSHMAN|BUSHMAN-chr6-32913567fwd/C/Ggaggcaggtccggcctggagagcttcagcacctccacatcaagactttgttgttcacctg02/16/1003/08/10132Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs112666302|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=149
 CAATCACACG ACCAGAATAG TGAGGGATTA ATGTCTCACC TGAAAGAGGC ATGAAAAATA
 ACACAAGAAT GTGCTGGTGC CCAGGCCCTT TTACCACCTC CAACTCACAA CGTCCTCTCC
 TGACTCACCC AAAACAGCAA GGACAAGGAA GAAGAAGGCG GCAACGAGGA GAGGCAGGTC
 CGGCCTGGAG AGCTTCAGCA
 S
 CCTCCACATC AAGACTTTGT TGTTCACCTG GTCCTGCTCC TTCTCCTGGG CTCCAGGAGG
 GCTCAGAACA GCCCACAGTG ACCAGCTGAG CCCCGCAGCC CCGTACCCCA CCAGCAGCCA
 GCTCCAAGGG GCTGAAGCGA CTCTGGCTGG GGGAGCACGT GAGGCCCCCG CGACCAGGGC
 TCTCAGGGAG ACAGTCAGGG

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/G
HWPC
G
ss201654787BUSHMAN_POP2 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
byClusterUNKNOWNUNKNOWNUNKNOWN