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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs8062725          
refSNP ID: rs8062725
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_020686.4:c.-42+18535A>G
NT_010393.15:g.100182A>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 ss12381276 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8062725 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
ss12381276WI_SSAHASNP|chr16.NT_010393.13_100182fwd/TA/Ggcctactagtaacataaacagttaattacagattagcctctacgtatattttatgcatcc07/04/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8062725|allelePos=585|totalLen=2126|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=116
 ATGGTATGCC AAAGGTCACT GCACTCCGCT GGGCTAGCTA TCTGCATTTC TATCTTGAAG
 GAGCAAGCAA ACATGCAAAT CTCTTGCCTT GCCCTTTGTG CGGGGGTTCG GCTACCTGGC
 TGACTGAAAG AACACTTCCC CTACTACATT TAAGGAGAAC TTTGCTTGGC TCAGACCTTT
 GAAGGATCCA AAGGTACCtt tttctttttt gagatggagc ctcactctgt tgcccaggct
 ggagtgcagt ggtgcaatct cagctcactg caatctccac ctcccaggtt caaatgattc
 tcctgcctca gcctcctgag tagctgggat tacaggtgca caccaccaca tctggctaat
 ttttgtattt ttagtagaga atggggtttt accatgttgg ccaggatggt ctcgaactca
 tgacctcagg tgatccacct gcctcagact cccaaagtgt tgggattaca ggcttgagcc
 acaatgccca gcctccatgt gtaacttttg actccccaaa aactttacta ctaatagcat
 ccggctaacc tgaagcctac tagtaacata aacagttaat taCA
 R
 gattagcctc tacgtatatt ttatgcatcc atgacatacc tagctttttc ttaaattttt
 tcaatgtttc taggctacac agtttgtctt tgagtttttc tagttgtcac aaatctccaa
 aaaaaattcc agtatattta ttgaaaaaaa tcctcatatt agtggagcca tgcatttcaa
 atccatgtta ttgaagggAA TACTCTTTTT AGGTCttttt atttttagtt ttttgagaca
 gactctgagt gtcgctctgt cacccagact ggagtgcagt ggcacgatct cagctcactg
 caacctccgc ctcccgggtt cacgtgatcc tcatgcctcg gcctcctgag tagctgggat
 tataggcatg tgccatgata ctgggctaat tttggtatgt ttagtagaga ctgggttttg
 ccatgttggc caggctggtc ttgaactcct gacctcaagt gatctgcctg cctcagcttc
 ccaaagtgct gggattacga gtataagcca ccatgcccag ctTGTTTTTA GGTCTTGAAT
 TTGCTTGGAG GGTTTTATTT TGTTTCACTT TGCCCAttct tttaagtaaa ttttttgttt
 tgagattagt gtagattcac acacagtcat aagaaatgat acagagagat cctatgggtc
 cttcatccta ttttccccaa cggcaccatc ttactaaccc atagagtaca atatcacaac
 caagatactg acattgatac agtccatcca ttttaATTTT AATTTTTTTA TTCtttattt
 ttatttattt gtttattttt tgagacagaa tctcgcactg tcacccaggc tggagtacag
 tggcacgatc tccgctcact gcaagctctg cctcccaggt tcacgccatt ctcctgcctc
 agcttcccga gtagctggga ctacaggcgc ccgccacaat gcccagattt tttttttttt
 tttttcagta gagacagggt ttcaccgtgt tagccagaat ggtctcgatc ttctgacccg
 cccgcctcgg ccttccaaag tgctaggatt acaggcgtga gccaccgcgc ccggcccact
 ccatccattt tattcagatt tccccagctt tacatgcatt caCCTTGCAC Gttttttgtt
 tgtttgtttt gttttgtttt tgagacaggg tcttgctctg tcacccagac tggagtgcag
 tggtgcaatc aatggctcac aatagccttg agctcctggg cttaagcaat tctcccgagc
 agctgggacc acaggcacat gcctccatgc ctggctacct tttttatttt ttgtagagat
 ggggtctcac tatatcgccc aagctggtct ggaactcctg ggctcaagcc atcctcccac
 ctcaacctcc caaagtgctg ggattacagg catgagccac cgcacctggG GCCAGCTATG
 AAAGATTTTG TTTTGAGGTT CTCAGTTGCC ATTGCCACTT TGCTGAAAAA AGCGGCTCAA
 ATTCCAGTGG AGTGTGGAGT CAGTCATGAT GGGTGCATTC C

  GeneView back to top
GeneView via analysis of contig annotation: ABAT 4-aminobutyrate aminotransferase
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_010393->NM_020686
function
HuRefNW_001838342->NM_020686
function
CeleraNW_926018->NM_020686
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_020686->NP_065737100182forwardintron
HuRefNW_001838342->NM_020686->NP_065737101056forwardintron
CeleraNW_926018->NM_020686->NP_0657378672122forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs8062725 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
16NT_010393.151001828694604plusAref_assemblyreferencereferenceview584
16NW_001838342.11010568709781plusAalt_assembly_8HuRefHuRefview584
16NW_926018.186721228956472plusAalt_assembly_1CeleraCeleraview584

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
HWPA
ss12381276HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
27021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
withHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .