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Reference SNP (refSNP) Cluster Report: rs139351995                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0004/49 (ExAC)
C=0.0008/4 (1000 Genomes)
C=0.0014/18 (GO-ESP)
C=0.0015/192 (TOPMED)
HGVS Names
  • CM000670.2:g.18400475A>C
  • NC_000008.10:g.18257985A>C
  • NC_000008.11:g.18400475A>C
  • NG_012246.1:g.14231A>C
  • NM_000015.2:c.472A>C
  • NP_000006.2:p.Ile158Leu
  • XP_016868427.1:p.Ile158Leu
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 ss342253607 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs139351995 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
ss342253607NHLBI-ESP|ESP2500-chr8-18257985byFreqfwd/TA/Ctgcattttctgcttgacagaagagagaggatctggtacctggaccaaatcaggagagagc03/25/1109/05/14134Genomicunknown
ss4888834031000GENOMES|20110521_exome_116808_chr8_18257985fwd/TA/Ctgcattttctgcttgacagaagagagaggatctggtacctggaccaaatcaggagagagc02/10/1202/13/12137Genomicunknown
ss491410759EXOME_CHIP|nonsyn_126985_chr_8_18257985fwd/TA/Ctgcattttctgcttgacagaagagagaggatctggtacctggaccaaatcaggagagagc03/05/1203/05/12137Genomicunknown
ss780867824ILLUMINA|HumanOmni25Exome-8v1_A_exm685673-0_B_R_1922910586fwd/TA/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/30/1307/10/15146Genomicunknown
ss783552755ILLUMINA|HumanOmniExpressExome-8v1_A_exm685673-0_B_R_1922910586fwd/TA/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/31/1306/19/15146Genomicunknown
ss13288539021000GENOMES|PHASE3_V1_41164986fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag08/16/1408/16/14142Genomicunknown
ss1689107868EVA_EXAC|EVA_EXAC_4197288fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag03/04/1503/04/15144Genomicunknown
ss1752722185ILLUMINA|OmniExpressExome-8v1-1_B_exm685673-0_B_R_1922910586fwd/TA/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/27/1506/09/15146Genomicunknown
ss1917826205ILLUMINA|HumanExome-12v1-1_B_exm685673-0_B_R_1922910586fwd/TA/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag10/16/1510/16/15147Genomicunknown
ss1946231109ILLUMINA|HumanCoreExome-12v1-0_C_exm685673-0_B_R_1922910586fwd/TA/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag10/29/1510/29/15147Genomicunknown
ss1959092403ILLUMINA|exm685673-0_B_R_1922910586fwd/TA/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag11/13/1511/13/15147Genomicunknown
ss2301164553HUMAN_LONGEVITY|HLI-8-18400475-A-Cfwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag11/18/1611/18/16150Genomicunknown
ss2470822145TOPMED|8_18257985_A/Cfwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag11/20/1611/20/16150Genomicunknown
ss2737016699GNOMAD|exomes_rs139351995fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/17/1705/17/17151Genomicunknown
ss2748005937GNOMAD|coding_rs139351995fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/17/1705/17/17151Genomicunknown
ss2863932595GNOMAD|rs139351995fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/19/1705/19/17151Genomicunknown
ss2985432613AFFY|Axiom_PsorMich_Affx-52287622fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag05/24/1705/24/17151Genomicunknown
ss3022824453ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685673-0_B_R_1922910586fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag06/28/1706/28/17151Genomicunknown
ss3555514742TOPMED|TOPMed_freeze_5?chr8:18,400,475fwd/A/Ctttctgcttgacagaagagagaggatctggtacctggaccaaatcaggag10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs139351995|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 TCTGTACTGG GCTCTGACCA CAATCGGTTT TCAGACCACA ATGTTAGGAG GGTATTTTTA
 CATCCCTCCA GTTAACAAAT ACAGCACTGG CATGGTTCAC CTTCTCCTGC AGGTGACCAT
 TGACGGCAGG AATTACATTG TCGATGCTGG GTCTGGAAGC TCCTCCCAGA TGTGGCAGCC
 TCTAGAATTA ATTTCTGGGA AGGATCAGCC TCAGGTGCCT TGCATTTTCT GCTTGACAGA
 AGAGAGAGGA
 M
 TCTGGTACCT GGACCAAATC AGGAGAGAGC AGTATATTAC AAACAAAGAA TTTCTTAATT
 CTCATCTCCT GCCAAAGAAG AAACACCAAA AAATATACTT ATTTACGCTT GAACCTCGAA
 CAATTGAAGA TTTTGAGTCT ATGAATACAT ACCTGCAGAC GTCTCCAACA TCTTCATTTA
 TAACCACATC ATTTTGTTCC TTGCAGACCC CAGAAGGGGT TTACTGTTTG GTGGGCTTCA
 TCCTCACCTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  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/C
C/C
HWPA
C
ss1328853902EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.997000040.00300000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1689107868ExAc_Aggregated_Populations121410AF 0.999596420.00040359
ss342253607ESP_Cohort_Populations 4432GF0.996841130.00315884 1.000000000.998420600.00157942

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0200000

  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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