NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs2248568          
refSNP ID: rs2248568
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:G
Clinical Association:unknown
HGVS Names
NM_207421.3:c.962+1185G>A
NT_004610.18:g.540902G>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 ss9825524 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2248568 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
ss3492880SC_JCM|AL390994.11_103285fwd/TA/Gacacctataatcccagcactttgggaggccaggcaggaggatcacctgagggtcggaagt09/24/0110/10/03100Genomicunknown
ss3541990SC_JCM|AC004824.3_72255rev/BC/Tacttccgaccctcaggtgatcctcctgcctggcctcccaaagtgctgggattataggtgt09/24/0110/10/03100Genomicunknown
ss9825524BCM_SSAHASNP|chr1.NT_030584.9_540902fwd/TA/Gacacctataatcccagcactttgggaggccaggcaggaggatcacctgagggtcggaagt06/27/0310/10/03116Genomicunknown
ss13032055SC_SNP|NT_030584.9_540902fwd/TA/Gacacctataatcccagcactttgggaggccaggcaggaggatcacctgagggtcggaagt10/22/0310/31/03119Genomicunknown
ss41194345ABI|hCV27268901fwd/TA/Gacacctataatcccagcactttgggaggccaggcaggaggatcacctgagggtcggaagt07/16/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2248568|allelePos=321|totalLen=1069|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=126
 AAAGTCAGGT ACAGATAAAA GGTGGAAGAC CAGTCTAGAC ACAGCATGGC TCAAGCCAGG
 GTGGCAGGAG CAGCCTTTAG TTGGGATTGG TCCGCAGGTA GGACACCCCC GCCCCACTCG
 CTCCACACCG GCCGCCTCCA GATTACTACC ACCACGTTGC CCTTTATTGC AAATTCCTTA
 GGTGAAGGCT tttttgtttt tttaaggtag gaggcaaagg ataatgctga tggaatgctc
 tagcagggat gggaaacact aatAGGAAAA GGTggccagt gtggtggctc acacctataa
 tcccagcact ttgggaggcc
 R
 aggcaggagg atcacctgag ggtcggaagt tcgagaccag cctggccaac atggtaaaac
 cccgtctcca ctaaaaatac aaaaattagc cagatgtggt agtgcatgcc tgtagtccca
 gctactcagt gaagctgagg caggagaatc acttgaaccc aggagacaga ggttgcagtg
 agctgaaata gccccactgc actgcagcct gggaaacaag agcgaaactg tctcaaaaac
 aaaaaataaa aTTgctgggt gtggtggctc atgcctgtaa tcccagcact ttgggaggct
 gaggcgggcg gatcacctga ggtcaggagt tcaagaccag cctggccaac atggtaaaac
 cccgtctcta ctaaaaatac aaaaaacaat tagccaggca tggtggtgca ccccagtaat
 cccagctact cgggaggctg aggcaggaga atctcttgaa cccagaaggc ggaggttgca
 gtgagccaag attgcaccac tgtactccag cctgggtgac agataagatt ccatctcaaa
 aaaaaaaaaa GACTTCTACC CCTCTTCCAG GCTCCGTGGG TGTAGAAGCC AGACAGCTTT
 TCCAGGGCAG GGCTCCTGGG GAGTGTGGTC CTCAGAGGAA TAGCAGGCTT CAGGATGAGA
 AGGTAAAATC TCAGAAAGTC TGATGGGATT CTGCTGATGG CAGATACAAA AGACATAAAG
 CAGAGAGATG TGGTATCTCG AGTATTTG

  GeneView back to top
GeneView via analysis of contig annotation: PADI6 peptidyl arginine deiminase, type VI
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_207421
svfunction
HuRefNW_001838572->NM_207421
svfunction
CeleraNW_927841->NM_207421
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004610->NM_207421->NP_997304540902forwardintron
HuRefNW_001838572->NM_207421->NP_997304519943forwardintron
CeleraNW_927841->NM_207421->NP_997304518127forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2248568 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_001838572.151994315962566plusGalt_assembly_8HuRefHuRefview320
1NW_927841.151812716041684plusGalt_assembly_1CeleraCeleraview320
1NT_004610.1854090217589147plusGref_assemblyreferencereferenceview320

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030584 AL138798 AL390994
dbSNP Blast Analysis
GenBank HTGS Finished:
AC004824.3 NC_000001.9

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .