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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12058264          
refSNP ID: rs12058264
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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_007365.2:c.276+243C>T
NT_004610.18:g.255472G>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 ss18137874 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12058264 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
ss18137874SC_SNP|SC-CHR1_NA17109-200402.chr1.NT_030584.10_255472fwd/TA/Gttgtatttttagtagagacagggtttcacctgttagccaggatggtctcgatctcctgac02/20/0403/04/04120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12058264|allelePos=501|totalLen=878|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=120
 Aaaaaaatta gctaggcata gggcaggcgt ctgtagtccc agctactctg gaggctgagg
 caggagaatg gtgtgaacct gggaggtgga gcttgcagtg agccgagatc gcatcactgc
 actccagcct gggtgacaga gggagactcc gtctcaaaca aacaaacaaa caaaaaacaa
 acaattttgt taatattttt tatattgata gcatgtcaaa atgataatat tttgatagat
 agggttaagt aatagatatt aagacaatta atttcacctg tttctttttg ccttttcttt
 tttttttttt ttttttttga gacggagtct cgctctgtcg cccaggctgg agtgcagtgg
 tgcgatctcg gctcactgca agctccgcct cccgggttca cgccattctc ctgcctcagc
 ctcccaagta gctgggtcta caggcacccg ccccatgcct ggctaatctt ttgtattttt
 agtagagaca gggtttcacc
 R
 tgttagccag gatggtctcg atctcctgac cttgtgatcc acccgcctcg gcctcccaaa
 gtgctgggat tacaggcttg agctactgcg cccggcctct ttttgccttt tcaatgtggt
 tactgcagaa ctgaaaatga cacatggccc acgtgcagtt tctatgggac agggctgGTC
 CACCCTGCCT CTATCCTGGC ATGGTCCCGG GCCCGCAGAG GCTGGACTTC CCGCCGTGGT
 ACCTTGTCAC TGCTGGCCTC GGTGCTCGCC TGGCTCATGG TGACCCGCAG GGTGGTGCTG
 GGCGAGAGAA GCCAGCGCTG CTTGCCATTG GTGGCCACCT CCTCAGCCTC CCCATCACGC
 ACCACCTCCA CCCACAC

  GeneView back to top
GeneView via analysis of contig annotation: PADI2 peptidyl arginine deiminase, type II
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_004610->NM_007365
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004610->NM_007365->NP_031391255472reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12058264 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_927841.122993615753493plusGalt_assembly_1CeleraCeleraview500
1NT_004610.1825547217303717plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030584
dbSNP Blast Analysis
GenBank HTGS Finished:
AL049569.13

  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 .