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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12735569          
refSNP ID: rs12735569
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_025150.3:c.1618-2298C>T
NT_004487.18:g.964868C>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 ss20491193 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12735569 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
ss20491193SSAHASNP|WGSA-200403-chr1.chr1.NT_032962.5_964868fwd/BC/Tggttcaagcgattctcctgccccagcctccgagtagctgggattacaggcatgtaccacc03/18/0403/18/04121Genomicunknown
ss41077225ABI|hCV26673150fwd/BC/Tggttcaagcgattctcctgccccagcctccgagtagctgggattacaggcatgtaccacc07/16/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12735569|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 cgtgttagcc aggatggtct cgatctgctg acctcatgat ctgcccgcct tggcctacca
 aagtgctggg attacaggca tgagccactg cgcccgAccg tctctacaaa aaatttaaaa
 caaattttaa aattagctgg atgtgatggt gggcacctgt agtcccagct actcaagagg
 ctgaggtggg aggatcactt gagcccagga ttttgaggct gcatgagcta tgatcaaggc
 accacactcc agcttgggta acagaacaaa accctgtctc aataaaataa ataaataaaa
 aGATAGAGAA AGGAAATTAC TCAAGAACTG TTATATAGCT AAAATCTTTT TTTTGTTTGT
 TTTGttttat ttatttattt ttatatattt ttttgagatc aaattttgct ctgtcgccca
 ggttggagtg cagtggcgca atctcggctc actgcaacct ctgcctgcca ggttcaagcg
 attctcctgc cccagcctcc
 Y
 gagtagctgg gattacaggc atgtaccacc acgcccggct aatttttgta tttttagtag
 agatgggatt tcaccatgtt ggccaggctg gtcttgaact cccaacctca ggtgatctgc
 tcgccttggc ttcccaaagt ggtgggatta ttacaggcat gagccatctt gcccagcGtt
 tttttcgttt ttgttttttt ccccgagaca gactcttgct ctgttgccag actgaagtgc
 actggcggat cttggctcac tgcaacctcc acctcccagg ttcaagcgat tctcttgcct
 cagcctcccg agtatctggg acaggtgtgc accaccacgc ccagctaatt tttttttttt
 tttttttgag gcggagtttt actctgtcgc caggctggag tggagtggca caatctcggc
 tcaccacaac ctccacctcc tgggttcaag cgattctcct gcctcagcct ccccagtagc
 tgggattaca ggcACCCGCT

  GeneView back to top
GeneView via analysis of contig annotation: TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
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_004487->NM_025150
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004487->NM_025150->NP_079426964868forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12735569 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838529.1670587121852756plusTalt_assembly_8HuRefHuRefview500
1NW_925683.1627102123590276plusCalt_assembly_1CeleraCeleraview500
1NT_004487.18964868148741137plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_032962
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL356356.17 BX296555.2

  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

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Revised: May 25, 2006 1:38 PM .