NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs17421144                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0003/36 (ExAC)
C=0.0002/1 (1000 Genomes)
C=0.0018/21 (GO-ESP)
C=0.0008/100 (TOPMED)
HGVS Names
  • CM000663.2:g.25300968T>C
  • CM000663.2:g.25300968T>G
  • NC_000001.10:g.25627459T>C
  • NC_000001.10:g.25627459T>G
  • NC_000001.11:g.25300968T>C
  • NC_000001.11:g.25300968T>G
  • NG_007494.1:g.33479T>C
  • NG_007494.1:g.33479T>G
  • NM_001127691.2:c.509T>C
  • NM_001127691.2:c.509T>G
  • NM_001282867.1:c.11T>C
  • NM_001282867.1:c.11T>G
  • NM_001282868.1:c.509T>C
  • NM_001282868.1:c.509T>G
  • NM_001282869.1:c.509T>C
  • NM_001282869.1:c.509T>G
  • NM_001282870.1:c.509T>C
  • NM_001282870.1:c.509T>G
  • NM_001282871.1:c.509T>C
  • NM_001282871.1:c.509T>G
  • NM_001282872.1:c.509T>C
  • NM_001282872.1:c.509T>G
  • NM_001321772.1:c.-67+36072A>C
  • NM_001321772.1:c.-67+36072A>G
  • NM_016124.4:c.509T>C
  • NM_016124.4:c.509T>G
  • NP_001121163.1:p.Met170Arg
  • NP_001121163.1:p.Met170Thr
  • NP_001269796.1:p.Met4Arg
  • NP_001269796.1:p.Met4Thr
  • NP_001269797.1:p.Met170Arg
  • NP_001269797.1:p.Met170Thr
  • NP_001269798.1:p.Met170Arg
  • NP_001269798.1:p.Met170Thr
  • NP_001269799.1:p.Met170Arg
  • NP_001269799.1:p.Met170Thr
  • NP_001269800.1:p.Met170Arg
  • NP_001269800.1:p.Met170Thr
  • NP_001269801.1:p.Met170Arg
  • NP_001269801.1:p.Met170Thr
  • NP_057208.2:p.Met170Arg
  • NP_057208.2:p.Met170Thr
  • NR_135787.1:n.1215+36072A>C
  • NR_135787.1:n.1215+36072A>G
  • NR_135788.1:n.277+37010A>C
  • NR_135788.1:n.277+37010A>G
  • NR_135789.1:n.1215+36072A>C
  • NR_135789.1:n.1215+36072A>G
  • XP_005246016.1:p.Met170Arg
  • XP_005246016.1:p.Met170Thr
  • XP_005246017.1:p.Met170Arg
  • XP_005246017.1:p.Met170Thr
  • XP_005246018.1:p.Met170Arg
  • XP_005246018.1:p.Met170Thr
  • XP_005246019.1:p.Met170Arg
  • XP_005246019.1:p.Met170Thr
  • XP_005246020.1:p.Met170Arg
  • XP_005246020.1:p.Met170Thr
  • XP_016857504.1:p.Met170Arg
  • XP_016857504.1:p.Met170Thr
  • XR_946736.1:n.664T>C
  • XR_946736.1:n.664T>G
  • XR_946737.1:n.664T>C
  • XR_946737.1:n.664T>G
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 ss341945893 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17421144 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
ss341945893NHLBI-ESP|ESP2500-chr1-25627459byFreqfwd/BC/Ttattgcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctattttgg03/25/1109/05/14137Genomicunknown
ss4886579521000GENOMES|20110521_exome_5796_chr1_25627459fwd/BC/Ttattgcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctattttgg02/10/1202/13/12137Genomicunknown
ss491289431EXOME_CHIP|nonsyn_5658_chr_1_25627459fwd/BC/Ttattgcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctattttgg03/05/1203/05/12137Genomicunknown
ss749602136ROSENBERGLAB|CHR1_25500046fwd/BC/Ttattgcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctattttgg04/26/1304/26/13142Genomicunknown
ss12900893871000GENOMES|PHASE3_V1_783720fwd/C/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat08/16/1408/16/14142Genomicunknown
ss1685398772EVA_EXAC|EVA_EXAC_194590fwd/C/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat03/04/1503/04/15144Genomicunknown
ss1685398773EVA_EXAC|EVA_EXAC_194591fwd/G/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat03/04/1503/04/15144Genomicunknown
ss2731264751GNOMAD|exomes_rs17421144fwd/C/G/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat05/17/1705/17/17151Genomicunknown
ss2746262106GNOMAD|coding_rs17421144fwd/C/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat05/17/1705/17/17151Genomicunknown
ss2752822970GNOMAD|rs17421144fwd/C/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat05/17/1705/17/17151Genomicunknown
ss3071294047TOPMED|TOPMed_freeze_5?chr1:25,300,968-01fwd/C/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat09/28/1709/28/17151Genomicunknown
ss3071294048TOPMED|TOPMed_freeze_5?chr1:25,300,968-02fwd/G/Tcagacagactaccacatgaacatgagcacatctacgtgttcgcagcctat09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17421144|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 AGAATCGCGT GAACCTGGGA GGCAAATGTT CCAGTGAGCC GAGATCGTGC CATTGCACTC
 CAGCCTGGGC AGAGCCTGCT GGGTTGGGCT GGGTAAGCTC TGAACACCAG TCTCATGGCT
 TCAAGTCACA CCTCCTAAGT GAAGCTCTGA ACTTTCTCCA AGGACTATCA GGGCTTGCCC
 CGGGCAGAGG ATGCCGACAC TCACTGCTCT TACTGGGTTT TATTGCAGAC AGACTACCAC
 ATGAACATGA
 B
 GCACATCTAC GTGTTCGCAG CCTATTTTGG GCTGTCTGTG GCCTGGTGCC TGCCAAAGCC
 TCTACCCGAG GGAACGGAGG ATAAAGATCA GACAGCAACG ATACCCAGTT TGTCTGCCAT
 GCTGGGTAAG GACAAGGTGG GGTGAGTGGT CTCCTACTTG GGCTGAGCAG AATGGCTCAG
 AAAAGGCTCT GGCTGAAAAA ATCTCCCTCC TTTACCAAGT TCCCCTGGGT GTCTGAAGCC
 CTTCCATCAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
UniGene Cluster ID
269364
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.
SourceC/C
C/T
T/T
HWPC
G
T
ss1290089387EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.00080000 0.99919999
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685398772ExAc_Aggregated_Populations112218AF 0.00032080 0.99967921
ss1685398773ExAc_Aggregated_Populations112184AF 0.000017830.99998218
ss341945893ESP_Cohort_Populations 4032GF0.000496030.001488100.998015880.001000000.00124008 0.99875993

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0190000

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement