NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs13046425          
refSNP ID: rs13046425
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_022136.3:c.279+477G>A
NT_011512.10:g.1550607C>T
Links

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss83846840 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13046425 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
ss21806506SSAHASNP|WGSA-200403-chr21.chr21.NT_011512.9_1550607fwd/BC/Ttgatctttttttttgttttgttttttgagagccatcttgctctgttgccaggctgaagtt03/20/0403/20/04121Genomicunknown
ss41464729ABI|hCV2772053fwd/BC/Ttgatctttttttttgttttgttttttgagagccatcttgctctgttgccaggctgaagtt07/17/0507/17/05126Genomicunknown
ss83846840HGSV|Cor18956_SNV_20070510.chr21_14810607fwd/BC/Ttgatctttttttttgttttgttttttgagagccatcttgctctgttgccaggctgaagtt11/30/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13046425|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GGAAACGTAA AGTACAACCA AATGTAAATC AAAATCACAA TGAGATTCCA CCTCACATCC
 ACTAGGATGG CTAGTATTAA AAAGACAGAC AATAACAAGT GTTGGCAATG ATGCAGAGAA
 ATTGGAACCC TCATACATTG TTGATGGGAA TGTCAAATGA CACACCTGCT TAAAAAAACA
 ATTTGCCAGT TTCTTTATTA GACATGGAGT TACTATATAT CCAAGAGAAA TGAAAAAATA
 TTTCCACACA AAAATTGAAC AGAAGTATCT GTAGCAGCAT TATTCATAAT AGCCAAAAAG
 TGAAAGCAAC CCAAGTAATC ACTAAGTGAT AAATGGATAA AGTAAATGTG ATCCATCTAT
 AAAAGGAGAA ATATTATTTG GCAATAAAAA GGAATGAAGT ACTGATACTT GCTACTAAAT
 TAATGACATG TTGTTCTTCA CATTGTTCTT CGCATCACAT TCTAGATGCA TGATCTTTTT
 TTTTGTTTTG TTTTTTGAGA
 Y
 GCCATCTTGC TCTGTTGCCA GGCTGAAGTT CAGTGGTGCA ATCAGGGCTC ACTGGAACCC
 CCGCCTCCCG GGTTCAAGCG ATTCTCCTTC CTCAGCCTCC TGAGTAGCTA GGACTACAGG
 CGTGCACCAC CATGCTCAGC TAATTTTTGT ATTTTTAGTA GAGACGGGGT TTCACCATGT
 TGGCCAGGCT GGTCTTGAAC TCCTGACTTC AGGTGATCTT CCCGCCACGG CCTCCAAAGT
 GCTCGGATTA CAGGTGTGAG CCACTGCACC CAGCAGATGC ATGATCTTTC TGAGTGTCAG
 TTTCTTCTGT TAAAATGAAA GTAATACTTC CTTCCACCCA AGTTCTGGGC ATAATGACTG
 AGGAAGAAAA CAAATGCTTA AGTACTTCAT AAAGTACCAA GCACTTCTAT AGTCTAGCTG
 AATAGTTTAA GAAAGTTTTA GTAGAAAAAT ACAAATGATT ATCAGAGAAT ATTTACCTTT
 TCCTCAGAAA GGGCTTTGAT

  GeneView back to top
GeneView via analysis of contig annotation: SAMSN1 SAM domain, SH3 domain and nuclear localization signals 1
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_011512->NM_022136
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011512->NM_022136->NP_0714191550607reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs13046425 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
21NW_927384.15436871058564plusCalt_assembly_1CeleraCeleraview500
21NW_001838706.17010941271680plusTalt_assembly_8HuRefHuRefview500
21NT_011512.10155060714810607plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512
dbSNP Blast Analysis
GenBank HTGS Finished:
AF165138.1

  Population Diversity back to top
There is no frequency data.

  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
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .