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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11585357          
refSNP ID: rs11585357
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_016233.2:c.1191C>T
NP_057317.2:p.R397R
NT_004610.18:g.425506C>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 ss52069287 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11585357 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
ss16431687CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_030584.10_425507fwd/BC/Tagattttggttacgtgactcgggaaccacggacaggtctgtgagtggcctggactccttt02/17/0403/04/04120Genomicunknown
ss24239469PERLEGEN|afd0991572byFreqfwd/BC/Tagattttggttacgtgactcgggaaccacggacaggtctgtgagtggcctggactccttt08/10/0409/13/04123Genomicunknown
ss43952936ABI|hCV22274699byFreqfwd/BC/Tagattttggttacgtgactcgggaaccacggacaggtctgtgagtggcctggactccttt07/18/0511/03/06126Genomicunknown
ss48422930APPLERA_GI|hCV22274699byFreqfwd/BC/Tagattttggttacgtgactcgggaaccacggacaggtctgtgagtggcctggactccttt09/28/0511/03/06126Genomicunknown
ss52069287SI_EXO|NT_004610.17_425507byFreqfwd/BC/Tagattttggttacgtgactcgggaaccacggacaggtctgtgagtggcctggactccttt03/29/0603/31/08127Genomicunknown
ss75061059ILLUMINA|ILMN_Human_1M_rs11585357fwd/BC/Tagattttggttacgtgactcgggaaccacggacaggtctgtgagtggcctggactccttt08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11585357|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CTTGAGCTGC TACTTGCCCT TGGGCTGAAC TTGCAGGAAG GCTGTGTAGG TAAGGGGATG
 GAGTGGCCAT GGCCTCAGGC TCCATGTCCG ATGGGGAGTG CAGGAGCAAC CGGAGCGCCC
 CCTGCTGTCT TGCCGTGATA AGGCAGCAGG GCCAGAGAGT CCGAGCACTT CCCGACTTTG
 CCTGCTATGC GTGCATGAAA TATTGACTGG GTCAGATCCC CCACCCACCG CCAATGACTC
 TGTATTTCCA CCTGAAGAAT GGATGGCCTT TCCCACCCTG TCTTGAAGGA GCTCAAAGCC
 CAGCAAGTTG GTTCAGGCCC TTCCTGGTAC CCTCCACCCC CGCCTGACTT GGTTTCCCTC
 TCCAGGGTCC AGATTTTGGT TACGTGACTC GGGAACCACG
 Y
 GACAGGTCTG TGAGTGGCCT GGACTCCTTT GGGAACCTGG AGGTCAGCCC TCCAGTGGTG
 GCCAATGGGA AAGAGTACCC CCTGGGGAGG ATCCTCATTG GGGGCAACCT GCCTGGGTGA
 GAGAGAGACA GGGAATGGAG TTCCTGGGGT GGAGGCTGAG GGTTGGGGGT GGTGATGATG
 GTGGAGCAGG GGCCATTGCA CTCCTTGAAG AGAGCCAGAA GCAAGGAATG ATGAAATTAT
 ACTCCCGGAT GTGCTGGGGT TGGTGGGTGT TCACCAGACA CAGTCCACAC TTACCTCGGG
 GACTCTGAAA CCAGAGAGAG CAGAGACCTA AGAGATCATT CAGTCCAACA CTTTCATTTT
 ACAAGTGGGC CCAGAGAGGG TAAGTGAGTC ACATAGAAAG

  GeneView back to top
GeneView via analysis of contig annotation: PADI3 peptidyl arginine deiminase, type III
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_016233
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004610->NM_016233->NP_057317425507forward1231synonymousTArg [R]3397
contig referenceCArg [R]3397

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11585357 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_001838572.140221215844835plusCalt_assembly_8HuRefHuRefview400
1NW_927841.140029615923853plusCalt_assembly_1CeleraCeleraview400
1NT_004610.1842550717473752plusCref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030584
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:GenBank HTGS Draft:
NM_016233.2 AL590644.14 AF188031.3 AF209070.2
UniGene Cluster ID
149195
3D structure mapping
NP_057317  

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss24239469AFD_EUR_PANELEuropean 48IG 0.500 0.500 0.150 0.750 0.250
AFD_AFR_PANELAfrican American 46IG 0.913 0.087 1.000 0.957 0.043
AFD_CHN_PANELAsian 48IG 1.000 1.000
ss48422930AGI_ASP populationmultiple 78IG 0.821 0.154 0.026 0.317 0.897 0.103
ss52069287HapMap-CEUEuropean 118IG 0.712 0.271 0.017 0.847 0.153
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.118+/-0.21237129990

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .