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Reference SNP (refSNP) Cluster Report: rs112454391                 ** With Benign allele **
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/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:A=0.0013/152 (ExAC)
A=0.0054/27 (1000 Genomes)
A=0.0045/58 (GO-ESP)
A=0.0037/468 (TOPMED)
HGVS Names
  • CM000678.2:g.88841055G>A
  • NC_000016.10:g.88841055G>A
  • NC_000016.9:g.88907463G>A
  • NG_008667.1:g.20912C>T
  • NM_000512.4:c.359C>T
  • NM_001323543.1:c.-197C>T
  • NM_001323544.1:c.377C>T
  • NP_000503.1:p.Ser120Leu
  • NP_001310473.1:p.Ser126Leu
  • XP_005256358.1:p.Ser120Leu
  • XP_005256359.1:p.Ser126Leu
  • XP_011521284.1:p.Ser126Leu
  • XP_016878600.1:p.Ser126Leu
  • XP_016878601.1:p.Ser126Leu
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 ss342437134 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs112454391 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
ss202088514BUSHMAN|BUSHMAN-chr16-87434963fwd/TA/Gttcttcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctcctgcg02/16/1003/08/10132Genomicunknown
ss3394880191000GENOMES|20100804_snps_11131560_chr16_88907463fwd/A/Gttcttcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctcctgcg03/22/1103/22/11134Genomicunknown
ss342437134NHLBI-ESP|ESP2500-chr16-88907463byFreqfwd/TA/Gttcttcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctcctgcg03/25/1109/05/14134Genomicunknown
ss4911102251000GENOMES|20110521_exome_618023_chr16_88907463fwd/TA/Gttcttcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctcctgcg02/10/1202/22/12137Genomicunknown
ss491513295EXOME_CHIP|nonsyn_229521_chr_16_88907463fwd/TA/Gttcttcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctcctgcg03/05/1203/05/12137Genomicunknown
ss534106127ILLUMINA|HumanOmni5-4v1_B_kgp16227411-0_B_R_1842807192fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc06/22/1208/29/15146Genomicunknown
ss780722179ILLUMINA|HumanOmni25Exome-8v1_A_exm1269315-0_B_R_1921667206fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc05/30/1307/10/15146Genomicunknown
ss783397961ILLUMINA|HumanOmniExpressExome-8v1_A_exm1269315-0_B_R_1921667206fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc05/31/1306/19/15146Genomicunknown
ss974496384JMKIDD_LAB|KhoeSan_Exomes_chr16_88907463fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc03/06/1403/06/14142Genomicunknown
ss13575148801000GENOMES|PHASE3_V1_70999055fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc08/16/1408/16/14142Genomicunknown
ss1692468340EVA_EXAC|EVA_EXAC_7816811fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc03/04/1503/04/15144Genomicunknown
ss1711440356EVA_MGP|EVA_XIMO_556116fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc03/09/1503/09/15144Genomicunknown
ss1752212390ILLUMINA|OmniExpressExome-8v1-1_B_exm1269315-0_B_R_1921667206fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc05/27/1506/09/15146Genomicunknown
ss1917911569ILLUMINA|HumanExome-12v1-1_B_exm1269315-0_B_R_1921667206fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc10/16/1510/16/15147Genomicunknown
ss1946423671ILLUMINA|HumanCoreExome-12v1-0_C_exm1269315-0_B_R_1921667206fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc10/29/1510/29/15147Genomicunknown
ss1959710070ILLUMINA|exm1269315-0_B_R_1921667206fwd/TA/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc11/13/1511/13/15147Genomicunknown
ss2214730078HUMAN_LONGEVITY|HLI-16-88841055-G-Afwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc11/18/1611/18/16150Genomicunknown
ss2379552969TOPMED|16_88907463_G/Afwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc11/19/1611/19/16150Genomicunknown
ss2742240977GNOMAD|exomes_rs112454391fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc05/17/1705/17/17151Genomicunknown
ss2749624902GNOMAD|coding_rs112454391fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc05/17/1705/17/17151Genomicunknown
ss2946568218GNOMAD|rs112454391fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc05/23/1705/23/17151Genomicunknown
ss3021740337ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1269315-0_B_R_1921667206fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc06/28/1706/28/17151Genomicunknown
ss3254721254TOPMED|TOPMed_freeze_5?chr16:88,841,055fwd/A/Gcagaagctccggcaggagctgctccagtctgggatgccgcccacaatctc10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs112454391|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 ATCCTGCTGG CAAGGTCACG CTGGCCTGCA CAGGGACGCT GGAGACACCT GAACACACCC
 AGAATCAGCT GCCGTTTCCC ACCCAAGACA CCCTCCTCAT TTGGAAACTT GTGGCCATGT
 CCCTTGGAAC CAAGGCCAGG AAGTGGATGG AGCAGGACGC CTGGGCAGGC GTGGCCAGGA
 GACTTACCAC TTGCCGACAA TCTTGCTGAC GTAGCCGGCC TTCTTCAGAA GCTCCGGCAG
 GAGCTGCTCC
 R
 AGTCTGGGAT GCCGCCCACA ATCTCCTGCG GTGTGTAGGC TGGAAGAGCA GCGCTGGGTG
 AGCCCCGAGG AGACCCCGAG AAGCTGCCAC CAACCCCATC CTAACAGGAC ACTGGGGGCT
 GCGTCCACAC ATCCTAACAG GACACTGGCC CCTCGGGGTC AAAGGCTGTG CCTGGGGGCT
 GCGCGTCCAC AGGGCATGGC ACTTCCCAAG ATTTTTCCAG GCACCCCTCA GAGCCAGTGC
 CATCACCAGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000016
dbSNP Blast Analysis
3D structure mapping
NP_000503  

  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/A
A/G
G/G
HWPA
G
ss1357514880EAS 1008AF 1.00000000
EUR 1006AF 0.001000000.99900001
AFR 1322AF 0.018900000.98109996
AMR 694AF 0.001400000.99859995
SAS 978AF 1.00000000
ss1692468340ExAc_Aggregated_Populations121404AF 0.001252020.99874800
ss342437134ESP_Cohort_Populations 4510GF 0.009756100.990243911.000000000.004878050.99512196

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0350000

  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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