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: rs4915060          
refSNP ID: rs4915060
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
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_001079874.1:c.235-7727G>A
NM_006113.4:c.1915-7727G>A
NT_019273.18:g.4075666C>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 ss85046245 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4915060 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
ss6793504WI_SSAHASNP|NT_029860.8_1982313fwd/BC/Tggatctctgctcactgcaacctccgcctccgggctcaagtaattcttctgcctcagtctc02/12/0310/10/03111Genomicunknown
ss85046245HGSV|Cor19240_SNV_20070510.chr1_107880023fwd/BC/Tggatctctgctcactgcaacctccgcctccgggctcaagtaattcttctgcctcagtctc11/30/0712/08/07130Genomicunknown
ss87700285BCMHGSC_JDW|JWB-0102175fwd/BC/Tggatctctgctcactgcaacctccgcctccgggctcaagtaattcttctgcctcagtctc02/26/0802/26/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4915060|allelePos=465|totalLen=872|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CATTTCCTTA ATTCACTTTT GCTTTGGTTA TTTTCATAGA TTTTTGTGAT ATTTTTGATC
 AGGAAAAAAC CTGTGAGGTG ATAATTTGAT AGGATTAGGG AGTTGGGAGC CTGGGTTTTA
 TTTTTGGCCT TCTGATCTTG AATAGGTCAT TCAACCCTTC TTGGCTTCAT TATCCTCACC
 TGTGAAACAC AGAGCACGAC CTAAGGATTT CCAATGTCTC GGCTACCACC AATGTTCTTT
 GCTTATATTA TATAAGCACT TTTGCAATGC CCCCACAGTA CTCCACTCAG TCATGGTTGG
 CCAAAAAACA TTTGATCCAC AAATTCTTAA TTAGGGATGA TGTGTGTCAG TAATTTAATC
 TTTTTTTTTT TTTTTTCTTT TTGGGACGGC ATCTCACTCT GCTGCCCAGG CTGGAGTGCA
 ATGGCGCGAT CTCTGGATCT CTGCTCACTG CAACCTCCGC CTCC
 Y
 GGGCTCAAGT AATTCTTCTG CCTCAGTCTC CCGAGTAGCT GGGATTACAG GCACATACCA
 CCATGCCTGG CTAATCTTTG TATTTTTAGT AGAGATGGGG TTTCACCATG TTGGCCAGGC
 TGGTTTCAAA CTCCTGACCT CAAATCATCC ACTTGCCCCA GCCTCCCAAA GTGTTGGGAT
 TACAGGCATG AGCCACTGTG CCAGGCCAGT AATTTAATCT GATAGCATTT ATTTACAGAA
 GACAAGGACA TTTCAGCTTC TTAGTGACGT TTTTAACTCA GTGTGAAGCG GTCTATTTTC
 CGAAGCACAT AAAGGTTGAT TTGTTAGAAA TTGCATTCAT TGATTCATTC TTCAGGAATT
 CAAATTATCA TGAATAATTA AAATTCAATA TATGCTATAA TTTGATA

  GeneView back to top
GeneView via analysis of contig annotation: VAV3 vav 3 guanine nucleotide exchange factor
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_019273->NM_001079874
function
referenceNT_019273->NM_006113
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_019273->NM_001079874->NP_0010733434075666reverseintron
referenceNT_019273->NM_006113->NP_0061044075666reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4915060 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_001838590.2607975106113876minusGalt_assembly_8HuRefHuRefview200
1NW_922017.13873034106342706plusCalt_assembly_1CeleraCeleraview200
1NT_019273.184075666107969504plusCref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
8
dbSNP Blast Analysis
GenBank HTGS Finished:
AL513206.6

  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

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 .