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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12103282          
refSNP ID: rs12103282
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_012426.3:c.71-707T>C
NT_010498.15:g.24176268T>C
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 ss18223775 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12103282 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
ss18223775SC_SNP|SC-CHR1_NA17109-200402.chr16.NT_010498.14_19283567fwd/BC/Ttttatctaaaatgatggagaagttttctttttttttttttttttttgagacgtagtcttg02/20/0403/04/04120Genomicunknown
ss85210298HGSV|Cor19240_SNV_20070510.chr16_69119570fwd/BC/Ttttatctaaaatgatggagaagttttctttttttttttttttttttgagacgtagtcttg11/30/0712/08/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12103282|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TGACTTCACT ATGTAATGCA ATGAATCTCA GCTGGAGTTT GGATAGAATT TTTGAAAGCA
 Cgtttttgtt ttttgtttgt tttgtttttg tttttTGTTT Gttttgtttt tgtttttgtt
 ttttccttga aacagagtcc tgctctgtca cccaggctgg agcgcagtgg tgtgatcttg
 gctcactgcc acctccgcct cctgggttca agcgattctc ctgcctcagc ctcctgagta
 gctgggatta catgcgtgca ccaccatgcc cggctaattt ttcatatttt tagtagagat
 gaggtttcac catattggcc aggctgatct cgaattcctg acctcgtgat ccacccacct
 tagcctccca aagtgctggg attacaggca tgagctactg tgccctgctG AAAGCACATT
 TTTAATACTA ATTTTATCTT TCAAATTCCT TTTCCAATTC AGTCTTCCTT TTTATCTAAA
 ATGATGGAGA AGttttcttt
 Y
 tttttttttt ttttttgaga cgtagtcttg ctgtgttgcc caggctggag tacagtagtg
 cgacctcggc tcactgcaaa ctccgtctcc caggttcaag cgattctcct gtgtcagcct
 ctggagtagc tgggattata ggcacgtgcc accacacctg gctaattttt gtatttttag
 tagagatggg atcccaccat gttggccagg ctggtttcaa actcctgacc tcaagtgatc
 tgcctgcctc agcctcccaa agtgctggga taacaggtgt gagccactgt gcgtggcctt
 tttttttttt tttttttttt ttagagacga tatcttgctg cgtttcccag gatggagtgc
 aatggcagga ttataaccca ctacattctc tgaactcctg ggttcaaact gtcctcccac
 gtagctggga ctagaggcac aggccatcac acctgactaa tttttttttg agacggagtt
 ttgctctgtt gcccaggcCG

  GeneView back to top
GeneView via analysis of contig annotation: SF3B3 splicing factor 3b, subunit 3, 130kDa
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_010498->NM_012426
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010498->NM_012426->NP_03655824176268forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12103282 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_926473.128939754966075minusAalt_assembly_1CeleraCeleraview500
16NW_001838295.230278156393131minusAalt_assembly_8HuRefHuRefview500
16NT_010498.152417626869119570plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010498
dbSNP Blast Analysis

  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 .