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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6565647          
refSNP ID: rs6565647
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
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_000199.2:c.663+17T>C
NT_024871.11:g.591493A>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 ss44015535 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6565647 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
ss10877268BCM_SSAHASNP|chr17.NT_024871.10_589631fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg06/30/0310/10/03116Genomicunknown
ss11190555WI_SSAHASNP|chr17.NT_024871.10_589631fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg07/03/0310/10/03116Genomicunknown
ss14302289BCM_SSAHASNP|chr17.NT_024871.11_591493fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg11/05/0311/22/03119Genomicunknown
ss19373610CSHL-HAPMAP|CSHL-HuDD-200402.chr17.NT_024871.11_591493fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg02/20/0403/04/04120Genomicunknown
ss21428724SSAHASNP|WGSA-200403-chr17.chr17.NT_024871.11_591493fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg03/19/0403/20/04121Genomicunknown
ss44015535ABI|hCV11489346fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg07/18/0507/18/05126Genomicunknown
ss82565564HGSV|Cor18956_SNV_20070510.chr17_75802549fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg11/30/0712/03/07130Genomicunknown
ss82788288HGSV|Cor19240_SNV_20070510.chr17_75802549fwd/TA/Ggacccagggctgacgggcgtcctgaaacacggaggggccgtcctaccagcacgtccagtg11/30/0712/03/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6565647|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GGCTGCCGGG GTGTTGGGGA CGAAGTAAGG CACCTGGGGC AGGCGGTGGG GAGCCAGGCT
 TAGAACAGGC ACCGGGGGAG CGGTGTCCAG CCTTCTCCCC GGGGCCTCCT GCAAATGGGT
 TAGCCCAGAA CAGCCTCACT CCGGACCACC CCGTCTCTCT ACGGTTCTCT CTGTGGCCCC
 GAGGTTGGGA ACCTGAATCC GATTTGGTCA GAGCCTCTTT CTTCATCATC TAGGGCCAGG
 GCTGCAAGCT CGTAGGAGGC CAGGGTCCCC GACCCAGGGC TGACGGGCGT CCTGAAACAC
 R
 GGAGGGGCCG TCCTACCAGC ACGTCCAGTG GGTCGTAGGC CTGGGGGGTC CAGTCTGGGA
 TACGACCCAT GCCGCTCTCT CCGTTGCCAA ACTTCTCACA GAAGGTTCCG TACTGGGGCT
 GGGAGTGCCC ACAGCGGTGG GGGTCGTGGA AGGCGACGTA GAGGAAGAAA GGCCTGCACG
 GGAGGAGGCT CATTGCCAAG GCTGCGGGGC CACTGCCACG TGGCACAGGA AGCCCCTCGG
 CTCTGCCTCC TCCTCTGTAT CTGGAAGTCA ACCTGTGACC CTCACTGCCT CAGTTTCCCC

  GeneView back to top
GeneView via analysis of contig annotation: SGSH N-sulfoglucosamine sulfohydrolase
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_024871->NM_000199
function
HuRefNW_001838457->NM_000199
function
CeleraNW_926918->NM_000199
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_024871->NM_000199->NP_000190591493reverseintron
HuRefNW_001838457->NM_000199->NP_000190280702forwardintron
CeleraNW_926918->NM_000199->NP_00019015322544reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6565647 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_001838457.228070273628221minusCalt_assembly_8HuRefHuRefview300
17NW_926918.11532254474817143plusGalt_assembly_1CeleraCeleraview300
17NT_024871.1159149375802549plusAref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024871
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 .