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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1205352          
refSNP ID: rs1205352
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_000687.1:c.973-2058T>C
NT_028392.5:g.3071590A>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 ss8474571 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1205352 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
ss1729868KWOK|OVLP-000925-293602fwd/TA/Gaattacaggtgtgtgccaccgtgcctggccgaagggggtctcttgagctgggctgagaag10/05/0010/10/0387Genomic97 %
ss8474571SC_SNP|NT_028392.4_3042266fwd/TA/Gaattacaggtgtgtgccaccgtgcctggccgaagggggtctcttgagctgggctgagaag04/17/0310/10/03114Genomicunknown
ss16902131CSHL-HAPMAP|CSHL-HuAA-200402.chr20.NT_028392.4_3042266fwd/TA/Gaattacaggtgtgtgccaccgtgcctggccgaagggggtctcttgagctgggctgagaag02/17/0403/04/04120Genomicunknown
ss17700642CSHL-HAPMAP|CSHL-HuCC-200402.chr20.NT_028392.4_3042266fwd/TA/Gaattacaggtgtgtgccaccgtgcctggccgaagggggtctcttgagctgggctgagaag02/19/0403/04/04120Genomicunknown
ss41405142ABI|hCV27167211fwd/TA/Gaattacaggtgtgtgccaccgtgcctggccgaagggggtctcttgagctgggctgagaag07/17/0507/17/05126Genomicunknown
ss78168021HGSV|Cor12878_SNV_20070510.chr20_32339159fwd/TA/Gaattacaggtgtgtgccaccgtgcctggccgaagggggtctcttgagctgggctgagaag10/17/0710/18/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1205352|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GATGGATGCT GCACTAGGGG TCTGTACTAA GAGTGTGGGC ATTGCCTCTG CCAGAGGAGC
 TGGCCAGGAA GGGGGTCTCT TTTTTATTTT ATTAAttttt tttttttttt tttttctgag
 acggagtctt actctgtcat ccaggctgga gtacagtggt gtgatctcag ctcactgcaa
 cctccacctc ctgggttcaa gcgattctcc tgcctcagcc tccagagtag ctgggactat
 acgcatgagc caccatgccc agctaatttt ttgtattttt agtagagaca gggtttgacc
 atgttggcca ggctggtctc aaactcctga cctcaagtga tccgcctgcc tcggcctccc
 aaagtgctgg aattacaggt gtgtgccacc gtgcctggcc
 R
 GAAGGGGGTC TCTTGAGCTG GGCTGAGAAG ATGAACAAGG AGAAGGGCAT GTGTTCTGTT
 CCAGACAAAT GCAGCTGTCT GGACAGATGA GCAGAAGTAG GAGCTGCAGT GGGTATTCAG
 GGAGTGGTCA ATTATGGCCT GAGTACAGAG GCCCTTGAGA GGACGGACAA GAGATAATGT
 TGGGCAGAAG GTTGGCAAGA CTGTCAAGGA TGTTGAGGGT GGGCATAGAG TCCAGCTTTG
 GAGGGCAGCT TGGCAGAAAG GTGCCCATCA CCCCAATGTA GCAGGTTTCA CCTGTGATGC
 CTTTGCAAAA AGGAGGTCTA GACAGATGGC TGTCAGGGGT GTGGCTGCCA CAGAAGCACG
 CCCTGGCCAC CCCCACACTG TGATGAGTGC CAGGCCTTCT

  GeneView back to top
GeneView via analysis of contig annotation: AHCY S-adenosylhomocysteine hydrolase
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_028392->NM_000687
svfunction
HuRefNW_001838664->NM_000687
svfunction
CeleraNW_927339->NM_000687
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_028392->NM_000687->NP_0006783071590reverseintron
HuRefNW_001838664->NM_000687->NP_0006782022692forwardintron
CeleraNW_927339->NM_000687->NP_0006783128084reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1205352 maps exactly once on NCBI human chromosome 20
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
20NW_927339.1312808429624975plusGalt_assembly_1CeleraCeleraview400
20NW_001838664.2202269229657298minusCalt_assembly_8HuRefHuRefview400
20NT_028392.5307159032339159plusAref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_028392 AL356299.16
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL356299.16 NC_000020.9 AL137253.8

  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 .