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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2746985          
refSNP ID: rs2746985
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:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_007229.2:c.610-1433C>A
NT_011520.11:g.22672513G>T
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 ss3877618 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2746985 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
ss3877618SC_JCM|AL049758.11_82896fwd/BG/Tagctcagaagcccaagacacatagctgtggttcagcgcccagcatctggaggatactgct09/25/0110/10/03100Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2746985|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=100
 CTCCTAAGAT GGCTGGGCTT GGGTCCTCTG TGCCAGGAAA AGGCCACCCC TGCCAGGGCT
 GGGGCATGCC CAGCAGAGAA AGAGCTCCAC AGCGCTGTGG CTATTCCCCT ATTCCCCACA
 GCCATCCACA CTGCCCGTGC CCACTACCTG GCAGCCCTGC ATGGGAGCCT AGCTCAGAAG
 CCCAAGACAC ATAGCTGTGG
 K
 TTCAGCGCCC AGCATCTGGA GGATACTGCT GAAGTGACAC AGAGCAGCCC CATCTCAGGA
 GCCTTCAAGA CACAATAGCC TCCCGGGAGC TCTCAGGGTA CTCAGTGGCA ACAAGATGCT
 CCACCTCTGG GCTGCCCCTG CCCTCAGCCT GTGCCGACCC TGCTAGCCCC AAGTCCTGCC
 CCCAGCACAG GCCAGGTACT

  GeneView back to top
GeneView via analysis of contig annotation: PACSIN2 protein kinase C and casein kinase substrate in neurons 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_011520->NM_007229
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011520->NM_007229->NP_00916022672513reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2746985 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
22NW_001838747.258827126240901minusCalt_assembly_8HuRefHuRefview200
22NW_927650.137212827192495plusGalt_assembly_1CeleraCeleraview200
22NT_011520.112267251341611944plusGref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AL049758 Z82199
dbSNP Blast Analysis
GenBank HTGS Finished:
AL049758.11

  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
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .