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: rs17421151                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:123/151
Map to Genome Build:108/Weight 1
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.000009/1 (ExAC)
T=0.00006/7 (TOPMED)
HGVS Names
  • CM000663.2:g.25300973A>T
  • NC_000001.10:g.25627464A>T
  • NC_000001.11:g.25300973A>T
  • NG_007494.1:g.33484A>T
  • NM_001127691.2:c.514A>T
  • NM_001282867.1:c.16A>T
  • NM_001282868.1:c.514A>T
  • NM_001282869.1:c.514A>T
  • NM_001282870.1:c.514A>T
  • NM_001282871.1:c.514A>T
  • NM_001282872.1:c.514A>T
  • NM_001321772.1:c.-67+36067T>A
  • NM_016124.4:c.514A>T
  • NP_001121163.1:p.Ile172Phe
  • NP_001269796.1:p.Ile6Phe
  • NP_001269797.1:p.Ile172Phe
  • NP_001269798.1:p.Ile172Phe
  • NP_001269799.1:p.Ile172Phe
  • NP_001269800.1:p.Ile172Phe
  • NP_001269801.1:p.Ile172Phe
  • NP_057208.2:p.Ile172Phe
  • NR_135787.1:n.1215+36067T>A
  • NR_135788.1:n.277+37005T>A
  • NR_135789.1:n.1215+36067T>A
  • XP_005246016.1:p.Ile172Phe
  • XP_005246017.1:p.Ile172Phe
  • XP_005246018.1:p.Ile172Phe
  • XP_005246019.1:p.Ile172Phe
  • XP_005246020.1:p.Ile172Phe
  • XP_016857504.1:p.Ile172Phe
  • XR_946736.1:n.669A>T
  • XR_946737.1:n.669A>T
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 ss4419874 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17421151 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
ss4419874LEE|e534282fwd/BA/Taacacagactaccacatgaacatgatgcactctacgtgttcgcagcctattttgggctgt04/26/0210/10/03147cDNAunknown
ss1685398774EVA_EXAC|EXAC_0.3.1:g25627464a>tfwd/A/Tagactaccacatgaacatgatgcactctacgtgttcgcagcctattttgg03/04/1503/04/15144Genomicunknown
ss2731264754GNOMAD|exomes_rs17421151fwd/A/Tagactaccacatgaacatgatgcactctacgtgttcgcagcctattttgg05/17/1705/17/17151Genomicunknown
ss3071294049TOPMED|TOPMed_freeze_5?chr1:25,300,973fwd/A/Tagactaccacatgaacatgatgcactctacgtgttcgcagcctattttgg09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17421151|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/T'|mol=cDNA|build=151
 TGGTCATCAG TAATATCTTC AACACAGACT ACCACATGAA CATGATGCAC
 W
 TCTACGTGTT CGCAGCCTAT TTTGGGCTGT CTGTGGCCTG GTGCCTGCCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
Z97026 Hs.108380
dbSNP Blast Analysis
UniGene Cluster ID
269364
3D structure mapping
NP_001121163  NP_057208  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
T
ss1685398774ExAc_Aggregated_Populations112156AF 0.999991060.00000892

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0030000

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

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