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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2053790          
refSNP ID: rs2053790
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:94/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_012173.3:c.-159+2582A>C
NM_183420.1:c.-8+2582A>C
NM_183421.1:c.-8+2582A>C
NT_023736.16:g.349648A>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 ss2964412 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2053790 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
ss2964412TSC-CSHL|TSC1079051fwd/BG/Tgtatcctcagctgaaaaaatattttaaaactgatgacacacaaatattgtacttacctat01/29/0110/10/0394Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2053790|allelePos=1738|totalLen=2476|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=94
 AGCCAAGAAG AAAAACTGAA AAGGAAGAGC CAAAAAGGTA GAGGGAGAAG TAGGAAGTCA
 GGAGAAAAAT GTATTTCAGG AAAGAAATGG TCGACAGAGA CGAAAATGTT ATAAAAATGC
 CAAGCATGGC AAGAGTTGAA AATATACGTT GAATTTAGCT ACAGAAAGGT AGCTGAATTA
 CTCAAGCAAA AGTGGTTTCT GTAATGTATT ACTTTAATTT CACGTCCCGA ACAGACTTGA
 GTATTTTATA ATATAGAATA TTTATATCGT AGAGAAAAAT GTAGAATATT TACATCATGG
 AGAATAAATG AGAGATGAAC ATCTCCAAAC ACCACCTCCC AACTATATTT AGTATAATTA
 ACAAAAAACA AGCTATTAAA TGGGCACTTA TACAATCCTA GAAGATACAG AAAAAAAAGG
 AAGGAAATTA CATAGACTTC AACAATATTC CTGGATCAAC CACAAATGCT TAATTCTTGA
 CTGGTGTAGG AAATGATGAA GTAATTATTC TTTACACGAA GAAAATCTCA AACCTTGCTA
 AACTGACTTA TAGTCAGAAC ATGTCTTTTT CAGTCACATA ATGATTAATT TAAATTCTTG
 CTTTAGAAAA TACTTTATTC CTTAAATTTC AGCACAATTT TGATAAACTT TGTCTCACAG
 AACTGCTTCA CAACTACTGA ACATCCTAAA ATGCAAAACT CAATGCCCAT GTTCAGTCGA
 CCTAAAGTTA TCTAAAACTG TCTCTAATAG CATACAGCTG ATTTTATGAT TTTCAAGAAC
 ATTCCCACCA AAGGCAGCAA AGACCATGAA GTAGCAGATG ACTGAAGTGG CACCTTGAGT
 CTCATAAAAC ACATTCAACA GAAAATGGCT GCTAGGAACA TCTCTGATAA TTATCAAATT
 ATCTCTCAAT ATCAACTTGA AACTGTGGAT TCAGAAATCT ATATTAAAAA AAAAAATCAA
 GTGGATAATC CTGAAAAATA TTGCTAACAG ACCAAATACA GGATTACTTC AACGACAAAC
 ATTTGAGCAC CAACTACATG TTATTATGCT AGATGTTCCT GCCCTCAAAA GTGTGCAATT
 TAGCTAAGGA ACTAAAAAAG AACAATAGCA AAACACACAC AAATTCCATA CAAGTGTAAT
 ATAATAAAGT GTGTTTACAT GTAGATATGT GAGTGTGCAT GTATACATAC ATACAGATAT
 GTCCACAATC TTGTAACTTG TGGTAAAGAG AGAATAAAGT TAATTTGAGC AGAAAGCAAA
 TCAGCTGGGA AAGCTCTGAC TAGAAACTAG GACTCGATCT TCGCCCTGAA GCATGGTTAG
 ATCTTAAATG AATGGAGAGG CAAGGCAAAA AATATCAATC ATGGGAATGG TGGGTGAATA
 AGTATAAAGG GCAAAATGTG TGCCACAGTT TGAGAAAAAT AAGCAGAAAA GATGGGATAA
 AATGGAGAAA GTTTATCAGA GGACTGGTAC ATAAGCGACT AGAAGCCAGG TCATAGAAGA
 ATATCAAAGG TGTTTAGACT TTATTCTGTC AGTAATTAAA CGTTTTTCAG CAACAGATCA
 GCGTGAGCAG TGTTGTTTTG AGAATAATAA TTTTCTAGGG CTTGTAGGAT AGATCAAATG
 AAAAACATGG AGACAGAAAA AAACAACTAG GCAACAAATA TCTTGCCAAC AGAACCTTAT
 CTGGATGACT GTCCTATGTA CATCCCGGTA TCCTCAGCTG AAAAAATATT TTAAAAC
 K
 TGATGACACA CAAATATTGT ACTTACCTAT TTAGACACTA TGCCCACTCA TCATTTAATA
 CACTTATCTT CTAGTTTCAC AATCTTTATA ACATTTACAT AAAGAGCCTG CCTACTGTTT
 CCATTAATAT AACCAATTCT TTTACAACTA CCTAAACTCT ACAGATAATT CATTTTGGCA
 ACTCAGTGAA AAATGAATAG TTTGGTCTGA ATTTCTCAGC TGATAAGTTT GATTTTTTAA
 GGGTTGAAAG GAGTGAAATG CAGCCATGGA AATAAAAAAA TAGTCCATGC CCAAAGGCTT
 ATTTTCAACA CAGAGGAAAA GATTTGTTTC TCTGAAGATG TGTGTGCTTC ACAGATTTGT
 TATGGTATGC TCTATGGATC ACAATGAAGT TTTTCTTAAA GCATAATCTA TACAGCTCAT
 GAACTAAAGC ACAAACTCTG GATGCAGATT AAAAACAACA CCACCAACAA AAAAAGACAA
 GTTGCAATTT AAAACGTCTG GGGTCTGGAT CTCAAGTTTT CAAAAATACT CCCAAACTGA
 GGCTTCTGAG TTTGCAAATC AGAAAACAAT GCTACTAAAG TTTTATAGAA TGATGATGAC
 CCACGGCTTT CAATGGGAAT GTATTTGTTC AGCTAAAAAA TGTGAATTGC TAGAGCTTTA
 TACGCTTATT TTAATTAAAA TTACCTTTAT TTTGGGAATT TACAAACACA AAAAAACTAG
 AAATTACTCC TGAAAATT

  GeneView back to top
GeneView via analysis of contig annotation: FBXO25 F-box protein 25
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_023736->NM_012173
svfunction
referenceNT_023736->NM_183420
svfunction
referenceNT_023736->NM_183421
svfunction
HuRefNW_001839101->NM_012173
svfunction
HuRefNW_001839101->NM_183420
svfunction
HuRefNW_001839101->NM_183421
svfunction
CeleraNW_923829->NM_012173
svfunction
CeleraNW_923829->NM_183420
svfunction
CeleraNW_923829->NM_183421
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_023736->NM_012173->NP_036305349648forwardintron
referenceNT_023736->NM_183420->NP_904356349648forwardintron
referenceNT_023736->NM_183421->NP_904357349648forwardintron
HuRefNW_001839101->NM_012173->NP_036305203556forwardintron
HuRefNW_001839101->NM_183420->NP_904356203556forwardintron
HuRefNW_001839101->NM_183421->NP_904357203556forwardintron
CeleraNW_923829->NM_012173->NP_036305198469forwardintron
CeleraNW_923829->NM_183420->NP_904356198469forwardintron
CeleraNW_923829->NM_183421->NP_904357198469forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2053790 maps exactly once on NCBI human chromosome 8
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
8NW_001839101.1203556203556minusAalt_assembly_8HuRefHuRefview1737
8NW_923829.1198469327565minusAalt_assembly_1CeleraCeleraview1737
8NT_023736.16349648349648minusAref_assemblyreferencereferenceview1737

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC083964.3 NC_000008.9 AC016992.5

  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 .