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: rs2236581          
refSNP ID: rs2236581
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/129
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_175866.3:c.*783A>G
NT_004487.18:g.12983478A>G
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 ss76885824 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2236581 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
ss3191026YUSUKE|IMS-JST016937byFreqfwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct08/07/0110/10/0398Genomicunknown
ss4321737CGAP-GAI|250910rev/BC/Tagacagactacctctcaaaaaatgtatatctaaatcttacggatgtgaaacaggtaggga11/28/0110/10/03102cDNAunknown
ss11394695WI_SSAHASNP|chr1.NT_004668.15_8863682byFreqfwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct07/03/0305/16/04116Genomicunknown
ss16232481CGAP-GAI|1473061rev/BC/Tagacagactacctctcaaaaaatgtatatctaaatcttacggatgtgaaacaggtaggga11/18/0311/22/03120cDNAunknown
ss17372740CSHL-HAPMAP|CSHL-HuCC-200402.chr1.NT_004668.16_998595fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct02/19/0403/04/04120Genomicunknown
ss20534181SSAHASNP|WGSA-200403-chr1.chr1.NT_004668.16_998595fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct03/18/0403/18/04121Genomicunknown
ss23655759PERLEGEN|afd4241568byFreqfwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct08/10/0409/13/04123Genomicunknown
ss43918935ABI|hCV16006948byFreqfwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct07/18/0511/03/06126Genomicunknown
ss65741369ILLUMINA|Human1-rs2236581fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct10/10/0610/10/06127Genomicunknown
ss74888807ILLUMINA|ILMN_Human_1M_rs2236581fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct08/28/0708/29/07129Genomicunknown
ss76885824SI_EXO|NT_004487.18_12983478fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct09/20/0709/20/07129Genomicunknown
ss77204315HGSV|Cor12156_SNV_20070510.chr1_159224781fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct10/09/0710/11/07129Genomicunknown
ss82187022HGSV|Cor19240_SNV_20070510.chr1_159224781fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct11/30/0712/02/07130Genomicunknown
ss87844200BCMHGSC_JDW|JWB-0135576fwd/TA/Gtccctacctgtttcacatccgtaagatttagatatacattttttgagaggtagtctgtct02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2236581|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TTATTTCTTT ATGTTGTCCA GTGGTTCTTC CTTATTGTTG ATATCCATAA GCTGGCACTG
 GATGCTCTCA GTAATGTTAA GTAATTGTCA AGCAGCAGTT ACCTACTGTG TTCTTAACAC
 TGAGTTGTGA ATTTTTTCTT AAAGCAGTAC TGTAGTACTG AATATTCCTT TAAAGGAACT
 GCAGTGAGCC TATCTAAGTT TTTTTAAATT AAGGCTTTTA AAATAGAAAG CTGATGCTTG
 ATCTTGCACA ATTTTTATGT CTAGTATGTA TGCTTGAGTG AATGTGCGAG TATGAATGAT
 TAGAGAAAAT TTGAGTCAGT GTACTTTATA GTGTGAATCC TGTGAGCTAA TACAGTCTAT
 ACTTATTTCT TCCCTACCTG TTTCACATCC GTAAGATTTA
 R
 GATATACATT TTTTGAGAGG TAGTCTGTCT GATACAATGT AAATGACAAA ACATAATTCC
 TGAGAGGCCC AGAACAAACT GGAGTCTAGC CTGGAGTTAA ATTGAGACTT CTAAAATGAT
 TGGAACAAAG ACTAAGTTGT GCCAGATGTA AATCAACCCC TCTTTTAGTT TACTTTAGAC
 TTTGTATTAG CTCATCTTTT TTGTAGTAAA TCTATAGTTT TAAGGTTTCT CAAGATGTGG
 CTCTACCTAC TATGATGAAA ATTGAAGTGG GTCAAAAGAA TTAGATGTAC AGTGAAGGGA
 AAAGAAAAAA AATGGGCGAA GAGAGGGTGG AAAATAAAAG GATTCTTTTT TCTTCCTTTC
 TGTTTCTCGT ATCCCTGCTC CCTTTTTCCT CCCCTTCCCT

  GeneView back to top
GeneView via analysis of contig annotation: UHMK1 U2AF homology motif (UHM) kinase 1
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_004487->NM_175866
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004487->NM_175866->12983478forward21793' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2236581 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_001838532.26263190133738200minusCalt_assembly_8HuRefHuRefview300
1NW_926128.1850922135596163plusAalt_assembly_1CeleraCeleraview300
1NT_004487.1812983478160759747plusAref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
CGAP-C-25091 NT_004668 BQ427419
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:GenBank mRNA:
NM_175866.3 AL359699.12 AJ536197.1 BC014917.1
UniGene Cluster ID
127310

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss11394695CEPH 184AF 0.620 0.380
ss23655759AFD_EUR_PANELEuropean 46IG 0.174 0.565 0.261 0.527 0.457 0.543
AFD_AFR_PANELAfrican American 46IG 0.304 0.391 0.304 0.317 0.500 0.500
AFD_CHN_PANELAsian 48IG 0.333 0.542 0.125 0.527 0.604 0.396
ss3191026JBIC-allele 722AF 0.466 0.534
ss43918935HapMap-CEUEuropean 118IG 0.373 0.373 0.254 0.100 0.559 0.441
HapMap-HCBAsian 90IG 0.378 0.400 0.222 0.251 0.578 0.422
HapMap-JPTAsian 88IG 0.136 0.659 0.205 0.050 0.466 0.534
HapMap-YRISub-Saharan African 120IG 0.300 0.467 0.233 0.655 0.533 0.467

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.498+/-0.03233226090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
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 .