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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2147456          
refSNP ID: rs2147456
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_022138.1:c.256+4265A>C
NT_007302.13:g.872958A>C
Links , Linkout

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 ss3075807 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2147456 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
ss3075807TSC-CSHL|TSC1168238fwd/TA/Cactgctagaagtcttgcttcattggctaggaggacagtgttgcattggacaactgtccgg06/07/0110/10/0396Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2147456|allelePos=469|totalLen=769|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=96
 CGGTTTCACG TGAGATTTTC AATAGGATCC CAGATGCTCC CAACGCCCGG CCTGTCTTCA
 GACTCTCCTA TGAGGTGGAC GGCTGGGGCC CTCCGGGGTG GCAGGACACC TCCCTCCACA
 CAAGGGCCAG CCATGGGGCA CACAGCGGGG TGCACAGGGG GCCCTCATGG GACTTCTCCA
 GAGCCCAGTG GTGCCTACTT TGTGGGGTCA TAAGCACAGG ACCCCAAAGT GCTGACCCCA
 CCCAGCTTCC CTAGCCTGCC CCAATGCTGC AAATTTGTTT ACTCTGCATC TGAGAAAAAT
 CAAGTCAGTC TGTTTCTTTG GAGACCAGCT ACTCCTTTAA GAAGCATCTT TCAGACTCAA
 GGACACACAG CGCCCACCAA GAACAGTGTG TCTCGTTCCA CACACTGAAT GAGTGTCTCC
 TTCCACTGCC GATACTCTAC TGCTAGAAGT CTTGCTTCAT TGGCTAGG
 M
 AGGACAGTGT TGCATTGGAC AACTGTCCGG GGATAACGTG ATTTCCAGCA TGCTTCACCC
 GGGAAACCGC AGGGCCATGG GTTATGGAAA GTTGGCGTGG AGCCAGGTAC ATGGCTTGAA
 GGAAGCATGT TCTTCTTTCC TTTGTGTCTG ACCGACGTGT GTGAGACTCA CACTGGAGAA
 AGACTCAGAT GTGATTTGAT GCCTTGGCTG TAGTTATAAA TGTCAGCTCT CTGTGCTGAG
 AAAGGAGAAA CAATTTAAGA ATAAATTTAA ATATCAGATG ATGTACTCTT CAGAGAAGTT

  GeneView back to top
GeneView via analysis of contig annotation: SMOC2 SPARC related modular calcium binding 2
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_007302->NM_022138
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007302->NM_022138->NP_071421872958forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2147456 maps exactly once on NCBI human chromosome 6
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
6NW_001838994.2854142166339986minusTalt_assembly_8HuRefHuRefview468
6NT_007302.13872958168657880plusAref_assemblyreferencereferenceview468
6NW_923184.1101701116169632512plusAalt_assembly_1CeleraCeleraview468

  NCBI Resource Links back to top
Submitter-Referenced
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 .