NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs149677938                 
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/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0004/26 (ExAC)
A=0.0010/5 (1000 Genomes)
A=0.0013/17 (GO-ESP)
A=0.0009/111 (TOPMED)
HGVS Names
  • CM000663.2:g.939076G>A
  • CM000663.2:g.939076G>C
  • CM000663.2:g.939076G>T
  • NC_000001.10:g.874456G>A
  • NC_000001.10:g.874456G>T
  • NC_000001.11:g.939076G>A
  • NC_000001.11:g.939076G>C
  • NC_000001.11:g.939076G>T
  • NM_152486.2:c.467G>A
  • NM_152486.2:c.467G>C
  • NM_152486.2:c.467G>T
  • NP_689699.2:p.Arg156His
  • NP_689699.2:p.Arg156Leu
  • NP_689699.2:p.Arg156Pro
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 ss341923361 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs149677938 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
ss341923361NHLBI-ESP|ESP2500-chr1-874456byFreqfwd/TA/Gtgttgggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagagaagag03/25/1109/05/14134Genomicunknown
ss4875614311000GENOMES|20110521_exome_17_chr1_874456fwd/TA/Gtgttgggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagagaagag02/10/1202/13/12137Genomicunknown
ss491283800EXOME_CHIP|nonsyn_27_chr_1_874456fwd/TA/Gtgttgggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagagaagag03/05/1203/05/12137Genomicunknown
ss780893389ILLUMINA|HumanOmni25Exome-8v1_A_exm88-0_B_R_1921389782fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag05/30/1307/09/15146Genomicunknown
ss783580024ILLUMINA|HumanOmniExpressExome-8v1_A_exm88-0_B_R_1921389782fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag05/31/1306/18/15146Genomicunknown
ss1067414242JMKIDD_LAB|HGDP_exomes_chr1_874456fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag07/09/1407/09/14142Genomicunknown
ss12893429591000GENOMES|PHASE3_V1_7879fwd/A/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag08/16/1408/16/14142Genomicunknown
ss1685217482EVA_EXAC|EVA_EXAC_707fwd/A/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag03/04/1503/04/15144Genomicunknown
ss1685217483EVA_EXAC|EVA_EXAC_708fwd/G/Tggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag03/04/1503/04/15144Genomicunknown
ss1751936831ILLUMINA|OmniExpressExome-8v1-1_B_exm88-0_B_R_1921389782fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag05/27/1506/09/15146Genomicunknown
ss1917720789ILLUMINA|HumanExome-12v1-1_B_exm88-0_B_R_1921389782fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag10/16/1510/16/15147Genomicunknown
ss1945981608ILLUMINA|HumanCoreExome-12v1-0_C_exm88-0_B_R_1921389782fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag10/29/1510/29/15147Genomicunknown
ss1958230182ILLUMINA|exm88-0_B_R_1921389782fwd/TA/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag11/13/1511/13/15147Genomicunknown
ss2159371550HUMAN_LONGEVITY|HLI-1-939076-G-A,Tfwd/A/G/Tggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag11/18/1611/18/16150Genomicunknown
ss2730987168GNOMAD|exomes_rs149677938fwd/A/C/G/Tggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag05/17/1705/17/17151Genomicunknown
ss2746169536GNOMAD|coding_rs149677938fwd/A/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag05/17/1705/17/17151Genomicunknown
ss2750650507GNOMAD|rs149677938fwd/A/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag05/17/1705/17/17151Genomicunknown
ss3021043197ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm88-0_B_R_1921389782fwd/A/Gggcaagaggctgggccgctcccccctatcagcagcgactgcttttcagag06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs149677938|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 TGTCAGAGCT CCCCTGTGCC CCTGTCCCGC CACAGCCAGG CGTGATGTCC TCTGCGCTGA
 AGGCTGGGGC TGCCAGGGCT GGGCAAGGCC TGTACTCACC AGGACCAAGG GCCCCCTGAG
 AGATGGTGGG TGCGGTCCAG GCTGAGCTGG AGCAGGGGCT GGGTTCCCCT TCCATTCCTT
 GAGATGCAGG TGGGCACTCA CTACCCTCCC GCAGGTGACC TGTTGGGCAA GAGGCTGGGC
 CGCTCCCCCC
 N
 TATCAGCAGC GACTGCTTTT CAGAGAAGAG GGCACGAAGC GAATCGCCTC AAGGTAAGAG
 CGTGGCTGGG ACGAGAGACA GGTCACCAGG GGAGGGGGCA GTCCCTGAGG GTCCCCTGGA
 CCTCGAGCAG GCACTCTAGA GGGGCGTGGT CCTCGGCAGT GCCTGGAGAA ACCTCTCACC
 CCGGGTCCTC CCCAGCAGAG GCGCTGCTGC TGCCGCGGGA GCTGGGGCCC AGCATGGCCC
 CGGAGGACCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis

  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
T
ss1289342959EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.003800000.99620003
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685217482ExAc_Aggregated_Populations121157AF 0.000231110.99976891
ss1685217483ExAc_Aggregated_Populations121132AF 0.999975200.00002477
ss341923361ESP_Cohort_Populations 4286GF 0.003733080.996266901.000000000.001866540.99813348

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0220000

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