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: rs3768581          
refSNP ID: rs3768581
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_014675.3:c.2515-507A>G
NT_004610.18:g.98661A>G
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 ss5446534 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3768581 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
ss4954635YUSUKE|IMS-JST123239fwd/BC/Taaaaaaaacaacaacaaaaacaaaacaaaagaaacaaaaaaaatgagggccctcactcag08/07/0210/10/03107Genomicunknown
ss5446534TSC-CSHL|TSC1343993fwd/BC/Taaaaaaaacaacaacaaaaacaaaacaaaagaaacaaaaaaaatgagggccctcactcag09/20/0210/10/03108Genomicunknown
ss9870984BCM_SSAHASNP|chr1.NT_030584.9_98661rev/TA/Gctgagtgagggccctcattttttttgtttcttttgttttgtttttgttgttgtttttttt06/27/0310/10/03116Genomicunknown
ss17334303CSHL-HAPMAP|CSHL-HuCC-200402.chr1.NT_030584.10_98661rev/TA/Gctgagtgagggccctcattttttttgtttcttttgttttgtttttgttgttgtttttttt02/19/0403/04/04120Genomicunknown
ss41305370ABI|hCV27268673rev/TA/Gctgagtgagggccctcattttttttgtttcttttgttttgtttttgtttttgtttttttt07/16/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3768581|allelePos=499|totalLen=976|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=126
 CACCCAGAGA CTGAGTAGCA CTCCCAGCGT CCCCCAGCTT GTTCATCGTG CAGCACCCCA
 ACTCTGGGCC TAACCCAGTC CTGGcagaag gcctgggttt gagcccaggg tctgccctga
 tgtgctacat gtacttgggc aagtcatgac cttctctAGA TCTGCAATGC ACGTGTGTAC
 AAAAACCAGG GCCCagccag gtacggtggt gcgtgcctat aatcccagca ctttggcagg
 tggatcactt gaggtcagga gttcaagacc agcctggcca acggggtgaa accctgtctc
 tactaaaaat acaaaaatta gccgggcgtg gtggtgcacg cctgtagtcc ctgctacttg
 ggacgctgag gcaggcgaac agcttaaacc ctggaggcgg aggttgcagt gagcccagat
 cgtgccactg cattccagcc tgggcaacag agcaagactc tgtctGGaaa aaaaaacaac
 aacaaaaaca aaacaaaa
 Y
 gaaacaaaaa aaaTGAGGGC CCTCACTCAG CTCTGGGAGT AACAGAACCC TTGTATTACT
 CTAAACTTGC AGAGAAGCTG AATATATAAA CCAGACCCAA GTGCAGCTGC TCGGCAGGCC
 TCAAGGTGGA GACCTGCACC CTGCTTCCTG CACCCCCTAC CCCATCCTCT AGAGGCCCCT
 CCCAGAAACC TAGGCGCTCC AGGATAGACC TTGCATGAAG GTCCCTGGAT CCCTGAAACA
 TTAAGGTCTC TTCCAGATGT GATGTTCCCA AAAGTCTAAG ATTCCAATTC TAAAAAGTCT
 CCACCtatta ttaatctgta tcattattat tattattatt attattatta ttattgagac
 ggagtcttgc tctgttgccc aggctggagt gcagtggcat gatcttggct cactgcaacc
 tctgcctcct gggttcaagc gattctcctg cctcagcctc ccaagtagct gggacta

  GeneView back to top
GeneView via analysis of contig annotation: CROCC ciliary rootlet coiled-coil, rootletin
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_014675
svfunction
HuRefNW_001838572->NM_014675
svfunction
CeleraNW_927841->NM_014675
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004610->NM_014675->NP_05549098661forwardintron
HuRefNW_001838572->NM_014675->NP_05549075675forwardintron
CeleraNW_927841->NM_014675->NP_05549073100forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3768581 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_001838572.17567515518298minusAalt_assembly_8HuRefHuRefview498
1NW_927841.17310015596657minusGalt_assembly_1CeleraCeleraview498
1NT_004610.189866117146906minusAref_assemblyreferencereferenceview498

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030584
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL049569.13 NC_000001.9 AL713858.5 BX284623.2

  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 .