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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6010217          
refSNP ID: rs6010217
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
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_002969.3:c.1024+504C>T
NT_019197.5:g.268113G>A
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 ss8308812 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6010217 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
ss8308812SC_SNP|NT_019197.3_268113fwd/TA/Gatggggcaaggagaggcaaggacagattcagaggtgtgagcagagaggccttagggacaa04/17/0310/10/03114Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6010217|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=114
 AGACAGGCGA GGCCCTGGGG ACTGTCTTGG GTATACAGTT GTCCAGGGGG GAGGGATCCT
 AAAGTGGGGC AAGGAGAGgg ctgggcgcgg tggctcacgc ctgtaatccc agcactttgg
 gaggccgagg cgggcggatc acgaggtcag gagatcgaga ccatcctggc taacacggtg
 aaaccccgtc tctactaaaa atacaaaaaa ttagccaggc ctggtggcgg gcgcctgtag
 tcccggctac tcgggaggct gaggcaggag aacggtgtgt acccgggaga cggagcttgc
 agtgagtcaa gatcgtgcca ctgccctcca gcctgggcat cagagtgaga ctccgtctca
 aaaaacaaaa aTGGGGCAAG GAGAGGCAAG GACAGATTCA
 R
 GAGGTGTGAG CAGAGAGGCC TTAGGGACAA GCGGACGTGG TGAGGGTGTC AGGGTGGCCC
 AGGTCTCTGG CCTGGACATG GCGGAAGGGC AGCAGGTCTG GGGGCCAGGA GGGGCTAAGT
 GGGCCCTGGT TCCCTGACTC ACAGCTGCCT TTCACCACTC CCGGCTCCTT CTGTGCCAGC
 CTCTGTGCTG AGCCTGCCAG GAACACCCTT CCCTTCAACT TCCAGCTCCA GCCAGAGGTC
 ATCTCCACCA GGCCACACGG CCCCATGCTG CCCTGACCTC CCATCCTCCT CACCTGACCT
 GCATCCCAGG GATGGGGATC TAGGACTCTG AGCCTGGCCA CCTGCACAGG GCCCACAGGG
 TCCACACAGG CCCTACCCGG AGCCCCCAAC TCACGGGTCC

  GeneView back to top
GeneView via analysis of contig annotation: MAPK12 mitogen-activated protein kinase 12
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_019197->NM_002969
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_019197->NM_002969->NP_002960268113reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6010217 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_001838755.127806833591089plusGalt_assembly_8HuRefHuRefview400
22NW_927650.1774765834568025plusGalt_assembly_1CeleraCeleraview400
22NT_019197.526811349035249plusGref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_019197
dbSNP Blast Analysis
GenBank HTGS Finished:
AL022328.21

  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 .