Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs121909552                 ** With pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/137
Map to Genome Build:37.4
Validation Status:
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Clinical Channel:link to VariationViewerlink to OMIM
Clinical Significance:With pathogenic allele [detail]
MAF/MinorAlleleCount:T=0.001/2
MAF Source:1000 Genomes
HGVS Names
NC_000001.10:g.173883863C>T
NG_012462.1:g.7654G>A
NM_000488.3:c.236G>A
NP_000479.1:p.Arg79His
NT_004487.19:g.25372505C>T
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence viewer) back to top

  GeneView back to top

  Submitter records for this RefSNP Cluster back to top
The submission ss489778161 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs121909552 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
ss263197756OMIM-CURATED-RECORDS|347fwd/TA/Gaacagaagatcccggaggccaccaaccggctgtctgggaactgtccaaggccaattcccg11/04/1011/04/10133Genomicunknown
ss3290365341000GENOMES|20100804_snps_680070_chr1_173883863rev/C/Tcgggaattggccttggacagttcccagacagccggttggtggcctccgggatcttctgtt03/22/1103/22/11134Genomicunknown
ss342012034NHLBI-ESP|ESP2500-chr1-173883863rev/BC/Tcgggaattggccttggacagttcccagacagccggttggtggcctccgggatcttctgtt03/25/1103/25/11134Genomicunknown
ss4897781611000GENOMES|20110521_exome_322833_chr1_173883863rev/BC/Tcgggaattggccttggacagttcccagacagccggttggtggcctccgggatcttctgtt02/10/1202/21/12137Genomicunknown
ss491306184EXOME_CHIP|nonsyn_22411_chr_1_173883863rev/BC/Tcgggaattggccttggacagttcccagacagccggttggtggcctccgggatcttctgtt03/05/1203/05/12137Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs121909552|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=137
 TTGCAGGAAG GTTTATCTTT TGTCCTTGCT GCTCATTGGC TTCTGGGACT GCGTGACCTG
 TCACGGGAGC CCTGTGGACA TCTGCACAGC CAAGCCGCGG GACATTCCCA TGAATCCCAT
 GTGCATTTAC CGCTCCCCGG AGAAGAAGGC AACTGAGGAT GAGGGCTCAG AACAGAAGAT
 CCCGGAGGCC ACCAACCGGC
 R
 TGTCTGGGAA CTGTCCAAGG CCAATTCCCG CTTTGCTACC ACTTTCTATC AGCACCTGGC
 AGATTCCAAG AATGACAATG ATAACATTTT CCTGTCACCC CTGAGTATCT CCACGGCTTT
 TGCTATGACC AAGCTGGGTG CCTGTAATGA CACCCTCCAG CAACTGATGG AGGTACGACC
 AAAGGTCTTC TGCCCAGCCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_000479  
OMIM
107300.0015

  Population Diversity back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss342012034ESP_Cohort_Populations 4552GF 0.000 1.000 1.000 0.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
-1.000+/-00000

  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