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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2647202          
refSNP ID: rs2647202
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_007365.2:c.1311-565G>A
NT_004610.18:g.227225C>T
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 ss11364749 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2647202 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
ss3731040SC_JCM|AC026021.4_75752fwd/TA/Gacatggtgaaaccctgtctctactaaaaatcaaaaattagccgggcgtggtggcacacgc09/25/0110/10/03100Genomicunknown
ss6801852WI_SSAHASNP|NT_030584.7_135399rev/BC/Tgcgtgtgccaccacgcccggctaatttttgatttttagtagagacagggtttcaccatgt02/12/0310/10/03111Genomicunknown
ss11364749WI_SSAHASNP|chr1.NT_030584.9_227225rev/BC/Tgcgtgtgccaccacgcccggctaatttttgatttttagtagagacagggtttcaccatgt07/03/0310/10/03116Genomicunknown
ss13032321SC_SNP|NT_030584.9_227225rev/BC/Tgcgtgtgccaccacgcccggctaatttttgatttttagtagagacagggtttcaccatgt10/22/0310/31/03119Genomicunknown
ss20571963SSAHASNP|WGSA-200403-chr1.chr1.NT_030584.10_227225rev/BC/Tgcgtgtgccaccacgcccggctaatttttgatttttagtagagacagggtttcaccatgt03/18/0403/18/04121Genomicunknown
ss77391872HGSV|Cor12156_SNV_20070510.chr1_17148189rev/BC/Tgcgtgtgccaccacgcccggctaatttttgatttttagtagagacagggtttcaccatgt10/09/0710/12/07129Genomicunknown
ss87261088BCMHGSC_JDW|JWB-0017282rev/BC/Tgcgtgtgccaccacgcccggctaatttttgatttttagtagagacagggtttcaccatgt02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2647202|allelePos=1142|totalLen=1512|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GATGAAATGG AGGGACTTGC AACGATAGAA AGAATAACAG GGAGTCAGGT CAGCCCAGGG
 AGTGGCCCTG AACCCCCTCG AGGAGCTCAG GGGCGGCCCT TAAAGacaaa tatttattga
 gaaactactc tgtgccaggc actattctag gctctgggga tacagcggtg accagaacag
 atgaagtccc agctctccgg gagtttatag ttgggtaagg gcagtacaga aaataaacat
 ggaatcaagt aaatcaatta gataattctg aatgctgata catgcaatgg agaagataaa
 acagggtgac atgataaaac attcctgggg acaggggtgc cttagctgtt gtttttttga
 agatgtgact agagttgagg cttggatgtt aagaagtagg cagccatcag gagattgtaa
 aggaagcgca ttccatacag aaggaacagc aaagggaaaa gccccaaggg atagcaagtg
 tagcaggtgg ctggagcaga cagaaccggg ggaagggagg gaagcgaggg aggagggctg
 gccaggagcc agatcagaaa ggaatttgtt ggccacccta aggagctagg gttatcttcg
 gaggataatg gagagATTGC AGACCTTGGG GGGTCTAGAA ATGAGGAAGG GCTggccggg
 agcggtggct cacacctgta atcccagcac tttggaaagc tgaggtgggc agatcacgaa
 gtcaagagat cgagaccatc ctggccgaca tggtaaaacc ccatctctac taaaaatgca
 aaaaaattag ctgggcgggg tggtgggcac ctgtagtccc agctacttgg gaggctgagg
 aaggaggatc gcttgaacca gggagggaga tattgcagtg agctgagatc atgccactgc
 actggtgaca gagttagact ctgtctcaaa atacaaaaaa caaacacaca caaaaaaAGA
 AATGAGGAAG GGCTTCCTGG AGGAGGTTTC TCTTGAACTG ATTAAAGATT AAAGTAAGTc
 caggcacagt ggctcacacc tgtaatccca gcagtttggg aggccaagga gggcggatca
 tgaggtcagg agttcaagac cagcttggcc aacatggtga aaccctgtct ctactaaaaa
 t
 R
 caaaaattag ccgggcgtgg tggcacacgc ctgtagtccc agctactcag gatgctgagg
 caggagaatt gcttgaaccc gggaggcaga ggttgcagtg aaccaagatc atgccactct
 actccagcct gggcaacata gcaagactcc atctcggggg aaaaaaaaaa GATTAAAGTA
 AGTAGAAGTT AATGTAGCAA AGAGGCACAT GGATGAGGGC AGATTTTGGA GCCCTCCTGT
 GCCCTAGCCC CGTCCAGCAG GCCAGGTGGG ACTCCCGCAC ACAAAAGGTA GCCTCTGCAC
 ACTCACTGGC ACCCTCAAGG GCTGAAGCCT GGGCTCCCTG CCCTTCACAC AGGCCGCAGC
 TGCAACTCAC

  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
svfunction
HuRefNW_001838572->NM_007365
svfunction
CeleraNW_927841->NM_007365
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004610->NM_007365->NP_031391227225reverseintron
HuRefNW_001838572->NM_007365->NP_031391204266reverseintron
CeleraNW_927841->NM_007365->NP_031391201670reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2647202 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_001838572.120426615646889minusTalt_assembly_8HuRefHuRefview1141
1NW_927841.120167015725227minusTalt_assembly_1CeleraCeleraview1141
1NT_004610.1822722517275470minusCref_assemblyreferencereferenceview1141

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030584 AL049569
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL049569.13 NC_000001.9 AC026021.4 AL928903.3

  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 .