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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs13174760          
refSNP ID: rs13174760
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:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_022455.3:c.1237-2194C>A
NM_172349.1:c.430-2194C>A
NT_023133.12:g.21444029C>A
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 ss22305150 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13174760 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
ss22305150SSAHASNP|WGSA-200403-chr5.chr5.NT_023133.11_21444029fwd/TA/Cagctgggactacaggtgtccgccaccaggctggctaattttttatatttttagtatagac03/21/0403/21/04121Genomicunknown
ss42617646ABI|hCV31766534rev/BG/Tgtctatactaaaaatataaaaaattagccagcctggtggcggacacctgtagtcccagct07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13174760|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 tttttttctt tttgagatgg agtctcactc tgtcgcccca gctggaatgc agtggcatga
 tctcggctca ccgcaacctc tgcctcctgg gttcaagcaa ttctcctgct tcagcctccc
 aagtagctga gattacaggc ttgcgccacc acgccctgct aatttttgta tttttagtag
 agacagggtt tcactatgtt ggccaggctg gtctcgacct cctaacctaa ggtgaccccc
 cgccatcccc ccgaccttgg cctctcaaaa tgctaggatt acaggcgtga gccactgtgc
 ccggccTCGT TACCGTAAtt atttattttt taatttattt atttttattt atttattttg
 agacagagtc tcgctctgtt gtgcaggctg gagtgcagtg gtgcgatgtc agctcactac
 aacctccgcc tcccgggttc acgccattct cctgcctcag cctcccgagt agctgggact
 acaggtgtcc gccaccaggc
 M
 tggctaattt tttatatttt tagtatagac ggggtttcac catgttagcc aggatggtct
 cgatctcctg accttgtgat ctgcccacct cagcctccca aagcactggg attgcaggcg
 tgagccaccg tgcctggccT ATTTATTTAA ATtttttttt tttttttttt tttttttttt
 agagaagggg tgggtctccc tgtgtttccc aggctgggct aaaggcatcc tcctgcctca
 gcctcgcaaa gtgctgggat taaaggtgtg agccactcca cgcagccttt tattcattta
 ttttattttt taaaatttga gacaggatcg tgctctgtca tccaggctgg agtgcagtgg
 cacggtttcg gcacactgca actttcacct cctgggcaca aatgatcctc ctacctcagc
 ctactgagta gctgggacca tatgcatgca gcatgtccag ctagtgtgtg tgtgtgtgtg
 cgtgtgtgtg tgtgtgtTTT

  GeneView back to top
GeneView via analysis of contig annotation: NSD1 nuclear receptor binding SET domain protein 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_023133->NM_022455
function
referenceNT_023133->NM_172349
function
HuRefNW_001838960->NM_022455
function
HuRefNW_001838960->NM_172349
function
CeleraNW_922796->NM_022455
function
CeleraNW_922796->NM_172349
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_023133->NM_022455->NP_07190021444029forwardintron
referenceNT_023133->NM_172349->NP_75885921444029forwardintron
HuRefNW_001838960->NM_022455->NP_071900465833reverseintron
HuRefNW_001838960->NM_172349->NP_758859465833reverseintron
CeleraNW_922796->NM_022455->NP_071900439295reverseintron
CeleraNW_922796->NM_172349->NP_758859439295reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs13174760 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
5NW_001838960.2465833171555352minusTalt_assembly_8HuRefHuRefview500
5NW_922796.1439295171866864minusGalt_assembly_1CeleraCeleraview500
5NT_023133.1221444029176567049plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023133
dbSNP Blast Analysis
GenBank HTGS Finished:
CT737351.13 CT737393.9

  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 .