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Reference SNP (refSNP) Cluster Report: rs147421281                 
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/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0029/311 (ExAC)
A=0.0006/3 (1000 Genomes)
A=0.0045/53 (GO-ESP)
A=0.0029/361 (TOPMED)
HGVS Names
  • CM000663.2:g.25300979G>A
  • NC_000001.10:g.25627470G>A
  • NC_000001.11:g.25300979G>A
  • NG_007494.1:g.33490G>A
  • NM_001127691.2:c.520G>A
  • NM_001282867.1:c.22G>A
  • NM_001282868.1:c.520G>A
  • NM_001282869.1:c.520G>A
  • NM_001282870.1:c.520G>A
  • NM_001282871.1:c.520G>A
  • NM_001282872.1:c.520G>A
  • NM_001321772.1:c.-67+36061C>T
  • NM_016124.4:c.520G>A
  • NP_001121163.1:p.Val174Met
  • NP_001269796.1:p.Val8Met
  • NP_001269797.1:p.Val174Met
  • NP_001269798.1:p.Val174Met
  • NP_001269799.1:p.Val174Met
  • NP_001269800.1:p.Val174Met
  • NP_001269801.1:p.Val174Met
  • NP_057208.2:p.Val174Met
  • NR_135787.1:n.1215+36061C>T
  • NR_135788.1:n.277+36999C>T
  • NR_135789.1:n.1215+36061C>T
  • XP_005246016.1:p.Val174Met
  • XP_005246017.1:p.Val174Met
  • XP_005246018.1:p.Val174Met
  • XP_005246019.1:p.Val174Met
  • XP_005246020.1:p.Val174Met
  • XP_016857504.1:p.Val174Met
  • XR_946736.1:n.675G>A
  • XR_946737.1:n.675G>A
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 ss341945895 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs147421281 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
ss341945895NHLBI-ESP|ESP2500-chr1-25627470byFreqfwd/TA/Ggactaccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtctgtgg03/25/1109/05/14134Genomicunknown
ss4886579541000GENOMES|20110521_exome_5797_chr1_25627470fwd/TA/Ggactaccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtctgtgg02/10/1202/13/12137Genomicunknown
ss491289432EXOME_CHIP|nonsyn_5659_chr_1_25627470fwd/TA/Ggactaccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtctgtgg03/05/1203/05/12137Genomicunknown
ss491589283CLINSEQ_SNP|SNV-chr1-25500057byFreqfwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc03/06/1209/05/14137Genomicunknown
ss780818828ILLUMINA|HumanOmni25Exome-8v1_A_exm32886-0_T_F_1921579947fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/30/1307/09/15146Genomicunknown
ss783501174ILLUMINA|HumanOmniExpressExome-8v1_A_exm32886-0_T_F_1921579947fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/31/1306/18/15146Genomicunknown
ss974960335EVA-GONL|EVA-GONL_rs147421281fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc04/23/1404/23/14142Genomicunknown
ss12900893891000GENOMES|PHASE3_V1_783722fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc08/16/1408/16/14142Genomicunknown
ss1584319153EVA_DECODE|EVA_DECODE_1_25500057_189891_rs147421281fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc03/02/1503/02/15144Genomicunknown
ss1685398776EVA_EXAC|EVA_EXAC_194594fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc03/04/1503/04/15144Genomicunknown
ss1751912851ILLUMINA|OmniExpressExome-8v1-1_B_exm32886-0_T_F_1921579947fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/27/1506/09/15146Genomicunknown
ss1917725006ILLUMINA|HumanExome-12v1-1_B_exm32886-0_T_F_1921579947fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc10/16/1510/16/15147Genomicunknown
ss1945988621ILLUMINA|HumanCoreExome-12v1-0_C_exm32886-0_T_F_1921579947fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc10/29/1510/29/15147Genomicunknown
ss1958254319ILLUMINA|exm32886-0_T_F_1921579947fwd/TA/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc11/13/1511/13/15147Genomicunknown
ss2731264756GNOMAD|exomes_rs147421281fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/17/1705/17/17151Genomicunknown
ss2746262107GNOMAD|coding_rs147421281fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/17/1705/17/17151Genomicunknown
ss2752822971GNOMAD|rs147421281fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/17/1705/17/17151Genomicunknown
ss2984850843AFFY|Axiom_PsorMich_Affx-52122162fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/24/1705/24/17151Genomicunknown
ss2986488865SWEGEN|NC_000001.10:g.25627470G>Afwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc05/30/1705/30/17151Genomicunknown
ss3021067978ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm32886-0_T_F_1921579947fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc06/28/1706/28/17151Genomicunknown
ss3071294050TOPMED|TOPMed_freeze_5?chr1:25,300,979fwd/A/Gccacatgaacatgatgcacatctactgttcgcagcctattttgggctgtc09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs147421281|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AACCTGGGAG GCAAATGTTC CAGTGAGCCG AGATCGTGCC ATTGCACTCC AGCCTGGGCA
 GAGCCTGCTG GGTTGGGCTG GGTAAGCTCT GAACACCAGT CTCATGGCTT CAAGTCACAC
 CTCCTAAGTG AAGCTCTGAA CTTTCTCCAA GGACTATCAG GGCTTGCCCC GGGCAGAGGA
 TGCCGACACT CACTGCTCTT ACTGGGTTTT ATTGCAGACA GACTACCACA TGAACATGAT
 GCACATCTAC
 R
 TGTTCGCAGC CTATTTTGGG CTGTCTGTGG CCTGGTGCCT GCCAAAGCCT CTACCCGAGG
 GAACGGAGGA TAAAGATCAG ACAGCAACGA TACCCAGTTT GTCTGCCATG CTGGGTAAGG
 ACAAGGTGGG GTGAGTGGTC TCCTACTTGG GCTGAGCAGA ATGGCTCAGA AAAGGCTCTG
 GCTGAAAAAA TCTCCCTCCT TTACCAAGTT CCCCTGGGTG TCTGAAGCCC TTCCATCATG
 ATTCATTTCT

  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/A
A/G
G/G
HWPA
G
ss1290089389EAS 1008AF 0.001000000.99900001
EUR 1006AF 0.001000000.99900001
AFR 1322AF 1.00000000
AMR 694AF 0.001400000.99859995
SAS 978AF 1.00000000
ss1685398776ExAc_Aggregated_Populations112072AF 0.002801770.99719822
ss341945895ESP_Cohort_Populations 4032GF0.000992060.005456350.993551610.001000000.003720240.99627978
ss491589283CSAgilent 1125GF0.002000000.007000000.991000000.001000000.005500000.99449998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.006+/-0.0530000

  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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