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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11654995          
refSNP ID: rs11654995
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_014960.2:c.1092-4029G>A
NT_010641.15:g.313457G>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 ss16747614 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11654995 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
ss16747614CSHL-HAPMAP|CSHL-HuAA-200402.chr17.NT_010641.14_279346fwd/TA/Gccgggcaccgaaacgaacaggggaagctttaagtataggtttgtatttattttgtctctt02/17/0403/04/04120Genomicunknown
ss21387334SSAHASNP|WGSA-200403-chr17.chr17.NT_010641.14_279346fwd/TA/Gccgggcaccgaaacgaacaggggaagctttaagtataggtttgtatttattttgtctctt03/19/0403/19/04121Genomicunknown
ss40809113ABI|hCV30903650fwd/TA/Gccgggcaccgaaacgaacaggggaagctttaagtataggtttgtatttattttgtctctt07/17/0507/17/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11654995|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AAGTGGGGTT TCATCCCATC AGAGGCTGGG AACCACTTCT CCATCAGACC CATGAGGCAT
 AGTGCCAGAG TCCATGGAAT TTTGGAAttt tttttttaag atggaatttc cctcttgtca
 ctcaggctgg agtgcaatgg cacgatctca gatcactgca acctccacct cctgggttca
 agtgattctc ctgcctcagc ctcccgggta gctgggatta caggtgcctg ccaccatgcc
 tggctaattt gttttgtatt tttagtagag acagggattc accatgttgg ccgggctggt
 ctggaactcc tgacctcagg tgattcaccc tcctcagcct cccaaagtgc tgagattaca
 actgtgagcc actgtgcccg gtcCTttttt ttttttttaa tgaaggaaga gacccacgaa
 ggcagaagtg cccaggtccc atgaaagctg cagtgtggct ctgCCAAAAG CCGGGCACCG
 AAACGAACAG GGGAAGCTTT
 R
 AAGTATAGGT TTGTATTTAT TTTGTCTCTT TCTCCGAGGT TTTAAAGACT CCCAGGCCCA
 ATTTCTTTGG TGGGGTTTGA GGTTTGGAGT AGCTGGGGTG CCCTTGGTAG CCTTAGTAGG
 GTGGATGCTT TCTTCAAGTT CTCATGTAGG CTGGGGGCCC AGGCCTGGGA TGACTTTGGG
 CTGCATGTGC CAGGGACCGT

  GeneView back to top
GeneView via analysis of contig annotation: ARSG arylsulfatase G
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_010641->NM_014960
function
HuRefNW_001838454->NM_014960
function
CeleraNW_926918->NM_014960
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010641->NM_014960->NP_055775313457forwardintron
HuRefNW_001838454->NM_014960->NP_0557759134194reverseintron
CeleraNW_926918->NM_014960->NP_0557753464156forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11654995 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
17NW_001838454.2913419461773028minusCalt_assembly_8HuRefHuRefview500
17NW_926918.1346415662958755plusGalt_assembly_1CeleraCeleraview500
17NT_010641.1531345763898780plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010641
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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .