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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6565529          
refSNP ID: rs6565529
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:A
Clinical Association:unknown
HGVS Names
NM_006340.1:c.54+3996G>A
NM_017450.1:c.54+3996G>A
NM_017451.1:c.54+3996G>A
NT_024871.11:g.1416643G>A
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 ss44002042 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6565529 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
ss10856712BCM_SSAHASNP|chr17.NT_024871.10_1414781fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct06/30/0310/10/03116Genomicunknown
ss12394060WI_SSAHASNP|chr17.NT_024871.10_1414781fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct07/04/0310/10/03116Genomicunknown
ss16761014CSHL-HAPMAP|CSHL-HuAA-200402.chr17.NT_024871.11_1416643fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct02/17/0403/04/04120Genomicunknown
ss19373892CSHL-HAPMAP|CSHL-HuDD-200402.chr17.NT_024871.11_1416643fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct02/20/0403/04/04120Genomicunknown
ss21432413SSAHASNP|WGSA-200403-chr17.chr17.NT_024871.11_1416643fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct03/19/0403/20/04121Genomicunknown
ss44002042ABI|hCV26027766fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct07/18/0507/18/05126Genomicunknown
ss77257482HGSV|Cor12156_SNV_20070510.chr17_76627699fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct10/09/0710/12/07129Genomicunknown
ss81282856HGSV|Cor18507_SNV_20070510.chr17_76627699fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct11/26/0711/29/07130Genomicunknown
ss90677530BCMHGSC_JDW|JWB-1055615fwd/TA/Ggtgggctttggccccaggcactgtcctgccgttgttggctccagggtgtacaacccttct02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6565529|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GCATGCAGTG CTTTGTGTTT AAGGATACTT CCTGGGGTGG CCCCCATGGG CACCATCTTG
 CCGCAGGGTG GCTGGGTCTG CTGTCACTGA GTAGACCTGG CCTGCATTTT CTCTACATGT
 GCATGTCTGT GTTACCCGCC CTCGCCACCG CCAGCCTTTA GCAGGGGGCA CGTCTCCCAG
 GAGCAGTGCT GATGTGGTCC CCTTGGTGGG GTGGCCAGGG CACAAAGACC GGCTGCCGTG
 TCATGCTGCC CTCTGGGCTG CCCAGCCTGT GTGGGCTTTG GCCCCAGGCA CTGTCCTGCC
 R
 GTTGTTGGCT CCAGGGTGTA CAACCCTTCT GCTGGTGCTT GCTCAGCGTC CCATGCCTGC
 TGGCTCCAGG TGGCGTCCAG CGTTCGCTTG GTGTCCCATG CCTGCTGTGC CGTTGGTGGC
 TGCATGAAGT CCGTGTCTAC CGATGGATGT GGCCAGGCGT TCTGGGATGT GGCGCTTGTG
 GAGTTGTGGG CTGCTTGGGG GAGAGTGTCC TGCCCGTGCC TGCTGTCCCC ACAGCCTTGC
 CTTGAGCAAG TATTCTTCGT TGGGGAGATT GGTTGGCTCG TGGTACTGCC CGAGTGGACC

  GeneView back to top
GeneView via analysis of contig annotation: BAIAP2 BAI1-associated protein 2
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_006340
svfunction
referenceNT_024871->NM_017450
svfunction
referenceNT_024871->NM_017451
svfunction
HuRefNW_001838458->NM_006340
svfunction
HuRefNW_001838458->NM_017450
svfunction
HuRefNW_001838458->NM_017451
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_024871->NM_006340->NP_0063311416643forwardintron
referenceNT_024871->NM_017450->NP_0593441416643forwardintron
referenceNT_024871->NM_017451->NP_0593451416643forwardintron
HuRefNW_001838458->NM_006340->NP_006331543692forwardintron
HuRefNW_001838458->NM_017450->NP_059344543692forwardintron
HuRefNW_001838458->NM_017451->NP_059345543692forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6565529 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_001838458.154369274452714plusGalt_assembly_8HuRefHuRefview300
17NW_926918.11614660575641204plusAalt_assembly_1CeleraCeleraview300
17NT_024871.11141664376627699plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024871
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC115099.6 AC127496.5 AC129919.9 NC_000017.9 AC130354.2

  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 .