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: rs6006772          
refSNP ID: rs6006772
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
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_001996.2:c.922+792G>A
NM_006485.3:c.922+792G>A
NM_006486.2:c.922+792G>A
NM_006487.2:c.922+792G>A
NT_011523.11:g.1202715G>A
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 ss19499675 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6006772 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
ss8304377SC_SNP|NT_011522.3_1191290fwd/TA/Ggggaggtcgaggctgcagtgagctgtgatctgctactgcactccagtctgggcaacagag04/17/0310/10/03114Genomicunknown
ss19499675CSHL-HAPMAP|CSHL-HuDD-200402.chr22.NT_011522.4_1198220fwd/TA/Ggggaggtcgaggctgcagtgagctgtgatctgctactgcactccagtctgggcaacagag02/20/0403/04/04120Genomicunknown
ss41541889ABI|hCV2454335fwd/TA/Ggggaggtcgaggctgcagtgagctgtgatctgctactgcactccagtctgggcaacagag07/17/0507/17/05126Genomicunknown
ss1126973991000GENOMES|CEU.trio.12.15.2008_3821291_chr22_44310673fwd/TA/Ggggaggtcgaggctgcagtgagctgtgatctgctactgcactccagtctgggcaacagag12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6006772|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GTAGGCTGGA TTTGGCCCAA GGACCACAGT TTGCTGATCT GGGTTTAGAT TAAAGAGCTT
 GGGTTTTGGA GTTAGAGTGA CCCAAGAAAA TTACTTCTGA GCTTTAATTT TTTCCTCTAT
 AAAATGGGAG TAATCATAAT ACCTGGCTTA GAGACTTGAG GCCAGGATTA GGCGAGTACT
 TGCGAAGTAC TGGTACACAG GAAGCACTCG GTGAGTGGTG ATTCCCTGCC ACAGGCATTT
 AGCCtattaa aaaattattt taaaaaataC TTggctgggc acagtgggtc acgcctgtaa
 tcctagcact ttgggaggcc aaggcaggag gattgcttga gcccaggttt ttgaggccag
 cctgggcaat atagcgagac cccatcacta caaaaaatta gctgggtgta gtggcgcatg
 cctacagtcc cagctacttg ggaggctgag gtgggaggat cccttgagca gggaggtcga
 ggctgcagtg agctgtgatc
 R
 tgctactgca ctccagtctg ggcaacagag caagaccctg tctcaaaaat aaaataaaat
 ataaaaataa aaaaCAGTCT GTGTTagtat ttgaattcat agagacagaa agtagaatgg
 aaggtgccgg ggctgggcag ggtgggggat ggggagtgag tgtttcctgg gcgcagagtt
 tcagtttgag aagatgaaaa agttctggag atggatgggg gtgatggtgg cacgacagtg
 tgaatgcagt aatgcccctg aaccgtctac ttaaaatggt tacgatggca gattttgtgt
 tacataaaat ttGTAGTTCA CATGTAGTTC ACCACAATGA GAAAAGAAAC TCTggccagg
 cacggtggct cacacttgta atcccagcac tttgggaggc cgaggagggt ggatcacctg
 aggtcaggag tttgagacca gcctgaccaa tatagtgaaa ccccatctct actaaaaata
 caaaaattag ctgggcgtag

  GeneView back to top
GeneView via analysis of contig annotation: FBLN1 fibulin 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_011523->NM_001996
svfunction
referenceNT_011523->NM_006485
svfunction
referenceNT_011523->NM_006486
svfunction
referenceNT_011523->NM_006487
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011523->NM_001996->NP_0019871202715forwardintron
referenceNT_011523->NM_006485->NP_0064761202715forwardintron
referenceNT_011523->NM_006486->NP_0064771202715forwardintron
referenceNT_011523->NM_006487->NP_0064781202715forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6006772 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
22NW_001838751.145563828877402plusGalt_assembly_8HuRefHuRefview500
22NW_927650.1302261329842980plusGalt_assembly_1CeleraCeleraview500
22NT_011523.11120271544310673plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011522
dbSNP Blast Analysis
GenBank HTGS Finished:
Z98047.1

  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
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 .