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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11018545          
refSNP ID: rs11018545
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_000372.4:c.1184+10131C>T
NT_008984.17:g.1232891C>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 ss15977631 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11018545 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
ss15977631SC_SNP|NT_008984.16_1232891fwd/BC/Tagtgatccactcgtctcagacttcagattgtgggattacagtcttgagccactgctccca11/18/0311/22/03120Genomicunknown
ss18922966SC_SNP|SC-CHR9-12_NA07340-200402.chr11.NT_008984.16_1232891fwd/BC/Tagtgatccactcgtctcagacttcagattgtgggattacagtcttgagccactgctccca02/20/0403/04/04120Genomicunknown
ss20762675SSAHASNP|WGSA-200403-chr11.chr11.NT_008984.16_1232891fwd/BC/Tagtgatccactcgtctcagacttcagattgtgggattacagtcttgagccactgctccca03/19/0403/19/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11018545|allelePos=1219|totalLen=3219|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CAGGTCATGT CTGTCTATAA CTATCACTCC AAAATCTAAT TATGAATACC ATTTCCCAAC
 TTGGCATTCA GTGACCTCAG GTCGGTATCC TGAAATCAGC CATGGTGAGA GTATTTACAC
 CATGAAATTG GCAAATGGTA CACGTCAGGG CTTTTATTCC AAAAGACCTA GTTGTTAAAA
 TAATGGCCAA CACACCACTG CTCTAATCTA TTAACTCACA GCACATTCTT TCTATGTCCC
 TTATTTTGGA CACATCAATT ATCTTTTTAT TTTTATCTCC TCATCTGTTA ACTGTTTTCT
 TGGCTGCAGG AAGCTTTTTT GTTTAATGTA ATCCTGTTTG TATATTTTTT ATTTTCGTTG
 CCTGTGCTTT GAGGATCATT TCCAAAAATA TTGCCCAGAC CCATGTCATG GAGCGTTCCC
 CCCATTTTCT TCTAGCAGTT TCACAGTTTC AGGTCTTACA CTTAAGTCTT TAACCCATTT
 TGATTTGATT TTTATATATG GTGTGAGATA AGTGTCTAAT TTCATTATTC TGAATGTGAC
 TATCCAGTGG TCTCATCACA ATATATTGAT GAGCCTATCC ATTGTGTATT TGTGGCATCT
 TTGTTGAAAA TCAATCATAA ATGCTTGACT TTATTTCTGG GATGTCTATT CTTTTCCATT
 GGTCAATATG TCTGTTTCTA TGCCAGTACT ATTCTGTGAT AATTACTACA GCTTTGTAGT
 ATATTTTGCA GTCAGATACT GTGATTCTCC TGCTTTGTTT TTATTACTCA AGATTGCTTT
 GGCTATTCAG GATCATTTGT GGTTGCATAA ATATTTTAGA ATTGTTTCAT TTCTGTGAAA
 AACATCATTA GAATTTTGGT AGGGATTGCA TTGAAACTGC AGATTGCTTT AGGTAGTATC
 AACATTTTAA TAATATTCTT TCTTCCAAAT TTTGTATTTT ATTATTTTTA TTTATTTATT
 TATTTATTTT TGAGACAGAG TCTCACTCTG TCACCCAGAC TGGAGTGCAG TGACGTGATC
 TTGGCTCACT CCCACCTCCA CCTCCCAGGT TCAAGCGAGT CTTGTGCCTC AGCCTCCTGA
 GTTGCTGGGA TTACAGGCAC ACACCACCAT ATCTGGCTAA TTTTTGTATT TTTAGTAGAA
 ATGGGGTTTC ACCATGTTGG CCAGGCTGGT CTCGAACTCC TGACCTCAAG TGATCCACTC
 GTCTCAGACT TCAGATTG
 Y
 TGGGATTACA GTCTTGAGCC ACTGCTCCCA GCCAATTCTT CCAATTTTTG AAGAAGAGAT
 ATATTTCAGT TTATTTGTAT CTCCTTAAAT TCCTTTCATC AATATTTTAT AGTTTTCAGT
 GTATAGCTAT TTTACTTCCT TGTTTAAATT TATTCCTAAG AATTTTTAAA ATTTTTATTT
 TTAATTAACA ACTAATGGTA TATATTTAGT AAGTACAATG TGATGTTTTG ATCTATACAT
 TTTTGTGATG CTATTGTAAA TTGATTGTTT CCTTCACTTT TTTTGGATAG TTCATTGTTA
 GTGTATGGAA ATGCTACTGA TTTCTGTATC TTGTTTTTGT ATCCTGTAAC CTTACTGAAG
 TCATTTTTTA ATTTTTAATA GAATTTTAGC AGATTTCTTA GGGTTTTCAG TATACACAAT
 CATGTCTGCA AACCGGGACC ATTTAATTTC TTCCTTTCTA ATTTGGATAC ATTTCATTTC
 TTTTTCTTAG CTAATTGCTC TAGCTAGGAC TTACAGTATT TGTTGATTAG TCATGGTGAG
 AGTGGGTATC CTTGTCTTCT TCCTGATATG AGACAAAAGA AGTTCTACTT TTTGCCATGA
 AGTATGATGT TAGCATTGGG TTTGTCATAT ATGCAAACTT TATTGTATTG AGGTACGTTC
 CATCTATACC TAATTTTTTG AGAGTATTAT CACAAAAGGA TGTTAAACTT GTTGAATACT
 TTTTTCTATT AATACAGCTA TTAAAATGAT CATATGATCA TGTGATTTTT CACAAATATA
 ACTGTGAAAT TTGTATATTA ACTATCCTTG CATCTTTGGG ATAATCCCTC TTGATGATAG
 TGAACCAGCC TTCTGTTGAA TTCACTGTCA AATTCAGTGT TTTAGTATTC TTTGAAGAGT
 TTTGCATCTA TGTTCATTAG GAATATTGGC CTGTAATTTT GTTTTGTCAT ACTCTCCTAG
 TCTGGCTTTG GTATCAAGGT AAAGCTGGCC TTCTGAAATG AGTTTGAAAG TATTCTCGCC
 ACTTAAATAT TTTGGAAGAG TTTTTGATGG ATTTGTATTA GTTCTTTAAA TGTTGGCAGA
 ACTTATCTCT GAAGCCATCA AGTCCTAAGC TTTTCTCTGA TGGAATAATT TTTATTACTA
 ATTCACTCTC TGTACTCATT ATTGGTCTAT TAAGATTTTC TATTTTTTCA TGATTCAGTT
 TTGGACATTG TGTGTTTCTT GGAATTTATC TATTTTCTTC TAGTTTACCC AATTCGTTGT
 TCTTAGTAGT CTCTTATGAT TTTTATATTT CTGTGGTATC TGTTGTAATG TCTCCTCTTT
 CATTTCTAAT TTTATTTATT TGCATCTTCT TTTTTTTCTT ATTCTGGATA AAGGTATGTC
 AATTTTGTTT ACCTTGTTAA AAACCAACTC TTAGCTTCAT TTATCTTTTG TGCTATTTTC
 ATTTACTTCT TCTCTGATGT TTATTATTTC CTTCCTTCTG TTAACTTTAG GCATAGTTTG
 ACCTTTATTT TCAGTTTTTT GAAGTACAGC ATTGGATTAT GTATTTGAAA TATTTTTTGT
 TAATGTAGGC ATTTATTGTT ATAAATATCC TTCTTAAAAA TGCTTTTGCT GCATCCCATA
 AGTTTTAGTA GTTTGTGTTT CCATTTTCTC TTCTCTAAAG GTTTTAAATT TCCTTTTTAA
 TGTTTTAATT GACCCATTTG TTGTTCAGAA ACATATTTTT AAGTTTCTAT GTATTTGTGA
 ATTTTTTGAA ATTCTTTCTA TTGTTGATTT CTAGTTGCAT ACCATTTTGG TCAGAAAAGA
 TACTTGATTA TTTCAGTCTT CTTAAATTTG TTAAGACTTG TTTTGTGTCT AACCATATGA
 TCTATCCTTA TGATAAACCA TGTGTGTGAC AATAATGCAC ATTTTCTGTT GCTGTTAGAA
 TGTTCTGTAT ACATCTGTCG GGTCCATTTG ATCTAAAATG TGGTGTAAGC CCTATGTTTC
 TCTATTGAGT AGGGTGGGGT

  GeneView back to top
GeneView via analysis of contig annotation: TYR tyrosinase (oculocutaneous albinism IA)
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_008984->NM_000372
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_008984->NM_000372->NP_0003631232891forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11018545 maps exactly once on NCBI human chromosome 11
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
11NW_001838029.254600285208277minusAalt_assembly_8HuRefHuRefview1218
11NW_925129.154731985660667minusAalt_assembly_1CeleraCeleraview1218
11NT_008984.17123289188610917plusCref_assemblyreferencereferenceview1218

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008984
dbSNP Blast Analysis
GenBank HTGS Finished:
AP000720.4

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .