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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4988869          
refSNP ID: rs4988869
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:113/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001083899.1:c.610+286C>A
NM_001083899.1:c.610+286C>G
NM_016363.4:c.610+286C>A
NM_016363.4:c.610+286C>G
NT_011109.15:g.27806850G>C
NT_011109.15:g.27806850G>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 ss7845404 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4988869 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
ss7845404DEVINE_LAB|DB_1_6795fwd/BG/Tctgccctcccacttccttcccacctctggcccgcccctgcagcccagggcttcctgccct03/16/0310/10/03113Genomic96 %
ss21553024SSAHASNP|WGSA-200403-chr19.chr19.NT_011109.15_27806850fwd/TC/Gctgccctcccacttccttcccacctctggcccgcccctgcagcccagggcttcctgccct03/20/0403/20/04121Genomicunknown
ss35320942SSAHASNP|TA-079.chr19_60230472fwd/C/Gctgccctcccacttccttcccacctctggcccgcccctgcagcccagggcttcctgccct03/11/05125Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4988869|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=125
 AAAAAAGAAA CCTCCATTCT CCCAGCTGCC TGTAGCCCAG GGCTTCCTGC CCTCCCACTT
 CCTTCCCACC TCTGGCCCCG CCCCTGCAGC CCAGGGCTTC CTGCCCTCCC ACTTCCTTCC
 CACCTACGGC CCCGCCCCTG CAGCCCAGGG CTTCCTGCCC TCCCACTTCC TTCCCACCTA
 CGGCCCCGCC CCTGCAGCCC AGGGCTTCCT GCCCTCCCAC TTCCTTCCCA CCTACGGCCC
 CGCCCCTGCA GCCCAGGGCT TCCTGCCCTC CCACTTCCTT CCCACCTACG GCCCCGCCCC
 TGCAGCCCAG GGCTTCCTGC CCTCCCACTT CCTTCCCACC TACGGCCCCG CCCCTGCAGC
 CCAGGGCTTC CTGCCCTCCC ACTTCCTTCC CACCTCTGGC
 B
 CCGCCCCTGC AGCCCAGGGC TTCCTGCCCT CCCACTTCTT TCCCACCTAT GGCCGCGCCC
 CTACAGCCCA GGGCTTCCTG CCCTCCCACT TCCTTCCCAC CTACGGCCCC GCCCCTGCAG
 CCCAGGGCTT CCTGCCCTCC CACTTCCTTC CCACCTACGG CCCCGCCCCT GCAGCCCAGG
 GCTTCCTGCC CTCCCACTTC CTTCCCACTT ATGGCCCCTC CCTTGGAATG GCCATCAGGA
 CCTATAAAGG CTGAGGAAGA AAGGTTTGGT CTGCACTACC CCTACCTGTG ACCACAAGCT
 CCAGGGGGTC GCTGGGGGCT GACCACAGGT ATGGGTCCCT GCTGGAGAAG CTGTAGCATC
 GGTAGGTTCC GCTGTGGGCG GCGGTCACCG TGATGATGGG

  GeneView back to top
GeneView via analysis of contig annotation: GP6 glycoprotein VI (platelet)
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_011109->NM_001083899
function
referenceNT_011109->NM_016363
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011109->NM_001083899->NP_00107736827806850reverseintron
referenceNT_011109->NM_016363->NP_05744727806850reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4988869 maps exactly once on NCBI human chromosome 19
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
19NW_001838498.240408251861824minusGalt_assembly_8HuRefHuRefview400
19NW_927284.1488550152578217plusCalt_assembly_1CeleraCeleraview400
19NT_011109.152780685060230472plusGref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011225
dbSNP Blast Analysis

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .