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: rs806627          
refSNP ID: rs806627
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_015419.2:c.189-1535G>C
NT_011757.15:g.1132111C>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 ss8221424 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs806627 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
ss1037879KWOK|OVLP-000804-505688fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca09/02/0010/10/0386Genomic97 %
ss1730628KWOK|OVLP-000925-315611fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca10/05/0010/10/0387Genomic97 %
ss2445725SC_JCM|AC004616.1_74124fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca11/03/0010/10/0389Genomicunknown
ss8221424SC_SNP|NT_025302.9_938166fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca04/16/0310/10/03114Genomicunknown
ss8544046SC_SNP|NT_025302.11_981791fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca05/23/0310/10/03116Genomicunknown
ss10563389BCM_SSAHASNP|chrX.NT_025302.11_981791fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca06/29/0310/10/03116Genomicunknown
ss12041923WI_SSAHASNP|chrX.NT_025302.11_981791fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca07/04/0310/10/03116Genomicunknown
ss18040548CSHL-HAPMAP|CSHL-HuCC-200402.chrX.NT_025302.12_932036fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca02/19/0403/04/04120Genomicunknown
ss20984292SSAHASNP|WGSA-200403-chrX.chrX.NT_025302.12_932036fwd/BC/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca03/19/0403/19/04121Genomicunknown
ss77530659HGSV|Cor12156_SNV_20070510.chrX_3243710fwd/C/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca10/09/0710/13/07129Genomicunknown
ss78388308HGSV|Cor12878_SNV_20070510.chrX_3243710fwd/C/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca10/17/0710/19/07129Genomicunknown
ss83434059HGSV|Cor18956_SNV_20070510.chrX_3243710fwd/C/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca11/30/0712/05/07130Genomicunknown
ss94215871BCMHGSC_JDW|JWB-2663933fwd/C/Gctctgtcgcccagtctggagtgcagtggccatctcggctcactgtaagctccgcctccca02/26/0803/06/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs806627|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 ACATAACACA TCTAGCCTGA TATCACTGAT TGCTTCTTCT TATCACTTAC ATAAAAGGAA
 ATCAATTAGC AGGGAACATA AGTGAACAGC TCATAGCTAA ATGCAGCAGA TACTAGCATG
 GTCCAATTTT CTCATACTCA TATGTGCTCA AACCTGGACT ACAATTCCAA AGTCAACAGA
 AACACCAGGT TAGGTGTGAC TCCCCTAAGA CCCAGCCTTA GGAAGCACCT TTCAGCTACA
 AATTTTTGAG TGCAGGAAAT TTATAAGCTC TACCCTCAAA AACCATTCAC CTTGATTGCA
 TCAAACTTTT CAAAGACCTC CTTTCATAAT TGCAttcttc ttcttttttt ttttttgaga
 cggagtctcg ctctgtcgcc cagtctggag tgcagtggcc
 S
 atctcggctc actgtaagct ccgcctccca ggttcacgcc attctcctgc ctcagcctcc
 cgagtagctg ggaccacagg cgcccgccac cgcgcccggc taattttttg tatttttagt
 agagatgggg tttcatcgtg ttagccagga tggtctcgat ctcctgacct cctgatccgc
 cccactcggc ctcccaaagt gctgggatta caggcgtgag ccaccgcgcc cggccACATT
 CTTCTTTTTA AGATAAATTT ATGCAAAGAA AACATCAGAT GGAATTAAAT GCATCCCACC
 TTATTGAAAT AATGTTGTAT AGATTCAATA TGGTGTATGG GGAAAATATA GTAGAAGATG
 ATCCTATTTC CTGTTCATCA TTTTGACTCA TGTAGTCAAT

  GeneView back to top
GeneView via analysis of contig annotation: MXRA5 matrix-remodelling associated 5
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_011757->NM_015419
svfunction
HuRefNW_001842356->NM_015419
svfunction
CeleraNW_927700->NM_015419
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011757->NM_015419->NP_0562341132111reverseintron
HuRefNW_001842356->NM_015419->NP_0562341193366reverseintron
CeleraNW_927700->NM_015419->NP_0562341929857reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs806627 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
XNW_001842356.111933661193366plusGalt_assembly_8HuRefHuRefview400
XNT_011757.1511321113260349plusCref_assemblyreferencereferenceview400
XNW_927700.119298577531575plusGalt_assembly_1CeleraCeleraview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_025302 AC073582 AC073582.3 AC073582.4
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC004616.1 NC_000023.9 AC073582.6

  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
byClusterUNKNOWNUNKNOWNUNKNOWN

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 .