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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8047474          
refSNP ID: rs8047474
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_015092.3:c.93-7542A>G
NT_010393.15:g.10228899T>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 ss12353219 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8047474 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
ss12353219WI_SSAHASNP|chr16.NT_010393.13_10189038fwd/BC/Tactaaaatagaaaaaataaaattacctgcggtggtggcacgcacctgtagtcccagctac07/04/0310/10/03116Genomicunknown
ss40697917ABI|hCV27396675fwd/BC/Tactaaaatagaaaaaataaaattacctgcggtggtggcacgcacctgtagtcccagctac07/17/0507/17/05126Genomicunknown
ss85887626HGSV|Cor19129_SNV_20070510.chr16_18823321fwd/BC/Tactaaaatagaaaaaataaaattacctgcggtggtggcacgcacctgtagtcccagctac12/06/0712/10/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8047474|allelePos=648|totalLen=2280|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CGCATAATGG AACAAATAAA CCTCCTATCC ATAGAGATCA TCTGGATCTG TCTATTCCCC
 CCATTTTCCA AGGTATGTCT TGTCtttttt tttttttttt tttttgagat gtagtctcgc
 tctgtcgcgc aggctgaagt gcggtgacgt gatctcgact cactgcaagc tccgcctccc
 ggattcacgc cattctcctg cctcagcctc ccgagtagct ggaactacag gcgcccaaca
 ccacgcccgg ctaatttttt atatttttag tagagacggg gtttcaccat gttagccagg
 atggtctcga tctcctgatc tcgtgatcca cccaccttgg cctcccaaag tgctgggatt
 acaggcttga gccaccgtgc ccggccTGTT TCTTTTGTAC GTTGCAAAAT CTCCCATTTT
 ACTACTGCTT ATCACATCAT CAACATATGA GCACTCTCAA AAGTCTTACT TTAAAAAAAA
 CAAAAAACAA AAAACAAAAA ATggccgggc acggcggctc acgcctgtaa tcccagcact
 ttgggaagcg aaggcaggca gatcataagg tcaggagatt gagaccaccc tggccaaaat
 ggtgaaaccc cgtctctact aaaatagaaa aaataaaatt acctgcg
 Y
 gtggtggcac gcacctgtag tcccagctac ctgggaggct gaggcagggg aatcgtttga
 acccaggagg cagagcttgc agtaagccga gatcatgcca ctacactcca gtctggtgac
 agagcaagac tctgtctcaa aaaaaaataa aataaaggcc gggtgaagtg gctcacgcct
 gtaatcccag cactttggga ggccgaggtg ggtggatcat gacgtcagga gttcaagacc
 agcctcgcca atgtagtgaa accccgtctc aactaaaaat acaaatatca gccaggcgtg
 gtggtgggtg cctgcaatcc cagctactca ggaggctggg gcaggagaat cgcttgaatc
 cgggaggcgg aggctgcagt gagccgagat tgcaccactg cattccagcc tgggcaacag
 agagactcca tctcaaaaaa caataataat aataaaataa aTCTAAAAAT TAAGAAAATA
 Aggccgggca cggtggctta cgcctgtaat cccagcactt tgggagggtg aggcaggcag
 atcatgagtt caggagtttg agaccagcct gggcaacata gtgaaacccc gtctctacta
 aaaatacaaa aaattagccg ggtatggtgg tgggcgcctg taatcccagc tagttgggag
 gctgaagcag gagaaccact tgaaccccgg aggtggaggt tgcagtgagc tgaggtcgcg
 ccattgcact ccagaccagg caacagtgtg agactctgac tcaaaacaaa aaacaaaaaa
 caaaaaaaCC CTTTAACTGC CTTTCTCCCT CTATCAATCT AATAGCCTGG ACTCTTCGCA
 GACAAACCTG TTGAAAAATT TATCTTCCTT GCCTTCACTT ACTTTTTAAC CCACTTTAAT
 CTGGGTTCCA CCTGCAACAC ACCACTGAAG CTATTCCTAC CAAGGTAGGA ACTGCCACTC
 AAGACCTTCT TGGCTCTAAA ATCCCATGAG ACTTTTTCAG TTCACATTAC AATTTCTCAA
 TACCATTCTA AAGTTTATGA GTTTTTTAGT TAACTTTAAT TCCAGTGACT CTTTCTACTT
 TATCCCAATC CAAGTATTCT CCTCCTTCTT CATTTCAttt tttttttttt ttgagacaga
 ctctgacttt gttgcccagg ctggagtata gtggtgcaat actggctcac tgcaacctcc
 acctccaggt tcaagtgatt ctcctgcctc agcctcccaa gtagctgaga ttacaggccc
 ctgctaccac acccggctaa tttttgtatt tttagtagag acggggtttc accatgttgg
 ccaggctggt ctcgaactcc tgacctcaag ggatccagcc gcctcggcct cccaaagtgc
 tggaattaca ggcgtgaggc aacatgcccg gccCCTtcct cacttcttta accagcttag
 atttcattgt gtatcatttc aacaacactc ttgcctatac ccttaactct taaggttttc
 atcacaccca tctggtaaaa ccccagtcct ggataaactc aatgatccat caacAAGCAC
 CATACTCCCA GGTCCTCCAG TGTTTACTTC CCATTCTATA CATGCACTAT CCAGACATTC
 CCATTCTCTT CA

  GeneView back to top
GeneView via analysis of contig annotation: SMG1 PI-3-kinase-related kinase SMG-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_010393->NM_015092
svfunction
CeleraNW_926151->NM_015092
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_015092->NP_05590710228899reverseintron
CeleraNW_926151->NM_015092->NP_055907164316reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8047474 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_001838381.114567217452896plusCalt_assembly_8HuRefHuRefview647
16NW_926151.116431618064181plusCalt_assembly_1CeleraCeleraview647
16NT_010393.151022889918823321plusTref_assemblyreferencereferenceview647
16NW_001838235.263532927246370minusGalt_assembly_8HuRefHuRefview647

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC092287.4 NC_000016.8 AC099523.2 AC126764.2 AC139267.1

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .