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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2535612          
refSNP ID: rs2535612
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000676.2:c.335+12666G>C
NT_010718.15:g.15458912G>C
XM_001722362.1:c.364-12671C>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 ss14287437 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2535612 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
ss3554329SC_JCM|AC006251.3_70253fwd/BC/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa09/24/0110/10/03100Genomicunknown
ss10880934BCM_SSAHASNP|chr17.NT_010718.13_14700700fwd/BC/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa06/30/0310/10/03116Genomicunknown
ss14287437BCM_SSAHASNP|chr17.NT_010718.14_14702569fwd/BC/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa11/05/0311/22/03119Genomicunknown
ss21420004SSAHASNP|WGSA-200403-chr17.chr17.NT_010718.14_14702569fwd/BC/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa03/19/0403/20/04121Genomicunknown
ss81121962HGSV|Cor18555_SNV_20070510.chr17_15802288fwd/C/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa11/27/0711/27/07130Genomicunknown
ss81170874HGSV|Cor18507_SNV_20070510.chr17_15802288fwd/C/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa11/26/0711/28/07130Genomicunknown
ss90547667BCMHGSC_JDW|JWB-1006722fwd/C/Gtgttggtcaggctggtctcaaactcccaactcaggtgatctgcccacctcggccttccaa02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2535612|allelePos=431|totalLen=931|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 GCCACCTGTT TTGCGCCAGT CCCGCCACCT GCAGACTTCC CAAAGCAGCT TTCTGTCTAT
 GACATCCTGA TTTCCACTGC TGATTTTAGC ACCACTGCTG AGTGTTTTTT TTTGTTTGTT
 TGTTTTGTTT TTTAAACATA GAGAACTACA AAGCTTTATT GAACGACATT GTAGAACCAG
 GACCTGTCAG GTACACTTCC tttttttttt tttttcttga gacagagttt cactcttgtt
 gcccaggctg gagtacaatg gtgcgatctt ggtcaccgca acctctgtct cccaggttta
 aacgattctc ctgcctcagc ctcgcgagta gctgggatta caggcgtgcg ccactgcatc
 cggctaattt tgtattttca gtagagacag ggtttctcca tgttggtcag gctggtctca
 aactcccaac
 S
 tcaggtgatc tgcccacctc ggccttccaa agtgctggga ttgcaggcgt gagccaccac
 gcccggccCA GGTACACTTC TTAAACTCTC CCTCCATTCA CTTCTCTTAG GCCCCATCTC
 CACGTCTGCC CCATTCCAGG GCAGCATTCT CCTATCTGGT CTCTCCGCAT CCATCCTTGT
 TCTTTTAGCC CATTCTTCAC ATAGCTGCAA TCTTTCTGAA ATGAACCCCT GTGTGCACCT
 CCTTCCTTTA CCCAGTGCTC CCAGTGCCTT AGGATGTCAT CCCAGATCTC TCCCTTGCCC
 CTACTCCCCA CCTGGTCTGG GGCCTAGGTC TGCTTCTGGC CTCATCCCCG TCCTCTCTTT
 CCTTCGTTTC TCTACCCTGA CTTCTCAGGA CCCCTCTCAA TTCCTGAGAC TTCTGGAGCT
 CAGGCCTTTG CGCATGTGTT TCCCTCTGCC TGCGGTGACC TTCTCTCTAT CTCTTTGCCT
 GCTGATTCTT CCCCATTTTC

  GeneView back to top
GeneView via analysis of contig annotation: LOC100131909 hypothetical protein LOC100131909
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
GeneView via analysis of contig annotation: ADORA2B adenosine A2b receptor
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_010718->XM_001722362
function
HuRefNW_001838406->XM_001725346
function
CeleraNW_926606->XM_001714611
function
referenceNT_010718->NM_000676
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010718->XM_001722362->XP_00172241415458912reverseintron
HuRefNW_001838406->XM_001725346->XP_001725398746780forwardintron
CeleraNW_926606->XM_001714611->XP_001714663177174reverseintron
referenceNT_010718->NM_000676->NP_00066715458912forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2535612 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_001838406.274678015729192minusGalt_assembly_8HuRefHuRefview430
17NW_926606.117717415764893plusCalt_assembly_1CeleraCeleraview430
17NT_010718.151545891215802288plusGref_assemblyreferencereferenceview430

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010718 AL354046
dbSNP Blast Analysis
GenBank HTGS Finished:
AL354046.5

  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 .