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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6861351          
refSNP ID: rs6861351
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:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_022455.3:c.928-17755G>A
NM_172349.1:c.121-17755G>A
NT_023133.12:g.21410716G>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 ss10193922 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6861351 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
ss10193922BCM_SSAHASNP|chr5.NT_023133.11_21410716fwd/TA/Ggctcacgcctgtaatcccagcactttgggatccgaggcgggtggatcacgaggtcaagag06/27/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6861351|allelePos=245|totalLen=1427|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=116
 CCAAAATATT ATTTCATAAG CACATTTAAT ATGTTAACTT TTAATGGATG AAGCAGTAAT
 TTGGTAGTTA AATGAACATT AATTCAACTT GCTTTGGTTA GTGGGAAGGA TATTTTAGTG
 TTATTTTCAT ATTCACATTA TCCTGCTGGT CAGCATTCCT TTTTATTCTC CTCCTTGGTC
 GTCAGAAAAG AGGTTAAAAA ggccgggcgc ggtggctcac gcctgtaatc ccagcacttt
 ggga
 R
 tccgaggcgg gtggatcacg aggtcaagag atcgagacca tcctggccaa catggtgaaa
 ccccgtcttt attaaaaata caaaaattag cagggcgtgg tggtgcccca gctacttggg
 atgctgaggc aagagaatca cttaaacgcg ggaggcggag gttgcagtga gccgagatcg
 cgccactgca ctctggcctg ggcaacaaga gcgagacAga ttacaggcgc acgccacctt
 gccaagctaa tttttgtggt tttagtagag acagggcttc gccatgttgg ccaggctggt
 ctcgaactcc caacctcaga tgatcgcctc ccaccttggc ctccccaagt gctgggatta
 caagcgtgag ccactgcacc cggccAGAAG TTATTATATA ATCAATGCAC CATTGCCCAA
 AATACTTATC TGAAtttttt ttttttgaca cggagtcttg ctcttgtcac ccaggctgga
 gtgcaatggc gtgatcttgg ctcactgcaa cccctgcctc ctgggttcaa gcaattcttc
 tgcctcagcc tcctgagtag ctgggattac aggtgcccac tacaacgccc ggctaatttt
 tctttgtatt tttggtagag atggagtttc accatgttgg ccaggctggt atgaaactcc
 tgagctcagg tgatctgccc acctcggcct cccaaagtgc tgggattaca ggtatgagcc
 accgtgcctg gccTTATCTG ACtttttttt tttttttttt ttgggacagt ctcgctctgt
 cacccaggct ggagtgcagt ggcgctatct tggcccactg caagctctgc ctcctgggtt
 cacgccattc tcctgcctca gcctcccgag tagctaggac tacaggcacc cgccaccacg
 cccggctaat tttttgtatt tttagtagag acggggtttc accgtgttag tcaagatggt
 ctcgatctcc tgacctcgtg atccactcgc ctcagcctcc caaagtgctg ggattatagg
 cgtgagccac tacacccggc cTGACTTTTA AGCCATTGTA TTTATTATAT CATTGATTTA
 GTTTTGGGCA AATGTGGTCA CAGAAGATTT GGACAAATGT TGTCACAAAA GGTTATGCTT
 AATTTTCCGT AATTTATTTC GGCAGTGAGT AGGAAGAAAA TT

  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_07190021410716forwardintron
referenceNT_023133->NM_172349->NP_75885921410716forwardintron
HuRefNW_001838960->NM_022455->NP_071900499250reverseintron
HuRefNW_001838960->NM_172349->NP_758859499250reverseintron
CeleraNW_922796->NM_022455->NP_071900472618reverseintron
CeleraNW_922796->NM_172349->NP_758859472618reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6861351 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_001838960.2499250171521935minusCalt_assembly_8HuRefHuRefview244
5NW_922796.1472618171900187minusCalt_assembly_1CeleraCeleraview244
5NT_023133.1221410716176533736plusGref_assemblyreferencereferenceview244

  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 .