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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs897958          
refSNP ID: rs897958
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:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_000512.3:c.423-901T>C
NT_010542.15:g.465691A>G
Links , Linkout

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 ss43960691 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs897958 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
ss1328873TSC-CSHL|TSC0172365fwd/TA/Gctgtccgggtttccttgcgcgcctgtcctgtcctggaacgaatccagctt09/06/0010/10/0386Genomic95 %
ss5012545YUSUKE|IMS-JST187322rev/BC/Taagctggattcgttccaggacaggacaggcgcgcaaggaaacccggacagctggcctggg08/12/0210/10/03108Genomicunknown
ss21369292SSAHASNP|WGSA-200403-chr16.chr16.NT_010542.14_462895fwd/TA/Gcccaggccagctgtccgggtttccttgcgcgcctgtcctgtcctggaacgaatccagctt03/19/0403/19/04121Genomicunknown
ss43960691ABI|hCV7476509fwd/TA/Gcccaggccagctgtccgggtttccttgcgcgcctgtcctgtcctggaacgaatccagctt07/18/0507/18/05126Genomicunknown
ss77223670HGSV|Cor12156_SNV_20070510.chr16_87432575fwd/TA/Gcccaggccagctgtccgggtttccttgcgcgcctgtcctgtcctggaacgaatccagctt10/09/0710/12/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs897958|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GATTAGAGTG ACGACAAGAG AACGTGACAG TGTGGCCACA CTGGTGACCT CCACCAACCG
 CTCTCCTGGG ACCGGGGTTC ACCTGCTGGG AATGGCCATC GCCAGGCATC ACACCCCAGG
 CCTGTGGGAA CCCCTCCAGA CCCCGTCCCG CACTCCCCTT CTGACAATCC CCCGCAGACC
 TTGTGCTCCC ACCCTCTGGT GGCACCTAAT CTCATCCTCC GGCCCACAGC AGCCCTGCAG
 GCCACACCTC TGTGCCCACT CGCCCTGGCC CCCAGGCCAG CTGTCCGGGT TTCCTTGCGC
 R
 GCCTGTCCTG TCCTGGAACG AATCCAGCTT GCGGCTGCTC TTCAGAACGG GCTGCAGGAG
 AGGTGGTATG AGATGGCTTC TAGGCACGGC CGTGGGCGGG TCTCACGTCA GTTGCGTGTC
 GTCTGAGGAA AGTTCTTCTG CAGCTACGGC TTTGAAAGCA GCATCCCCGA CGCAGATTTC
 CCCGAGGCAG ATTTCACCAC AGCAGATTTC TGCTGCCTCC CTGGACATGG CCTCTGTACC
 CTGGACCTCC CGAGCTGCCT CTCCCCATCT CCTCTCTCAG GTAAGCACGC CTGGACCTCT

  GeneView back to top
GeneView via analysis of contig annotation: GALNS galactosamine (N-acetyl)-6-sulfate sulfatase
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_010542->NM_000512
function
HuRefNW_001838334->NM_000512
function
CeleraNW_926561->NM_000512
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_010542->NM_000512->NP_000503465691reverseintron
HuRefNW_001838334->NM_000512->NP_00050339928reverseintron
CeleraNW_926561->NM_000512->NP_000503541656reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs897958 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
16NW_926561.154165673973666plusAalt_assembly_1CeleraCeleraview300
16NW_001838334.13992874602264plusAalt_assembly_8HuRefHuRefview300
16NT_010542.1546569187432575plusAref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010542 AC021125.3 AC021591.2 AC074303.1
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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .