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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs3730156          
refSNP ID: rs3730156
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:107/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_002750.2:c.123-51A>C
NM_139046.1:c.123-51A>C
NM_139047.1:c.123-51A>C
NM_139049.1:c.123-51A>C
NT_017696.14:g.417308A>C
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 ss4916101 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3730156 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
ss4916101WIPGA|WI-23471fwd/TA/Catgtatatgactgtttcatgaattcagtttcagatttttgcttgaagtttttttgtgtgt07/12/0210/10/03107cDNAunknown
ss69365757PHARMGKB_PHAT|PS204172_PA131326181_4758byFreqfwd/TA/Catgtatatgactgtttcatgaattcagtttcagatttttgcttgaagtttttttgtgtgt03/22/0703/31/08127Genomicunknown
ss69368830PHARMGKB_PHAT|PS205768_PA144608992_101byFreqfwd/TA/Catgtatatgactgtttcatgaattcagtttcagatttttgcttgaagtttttttgtgtgt03/22/0703/31/08127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3730156|allelePos=151|totalLen=301|taxid=9606|snpclass=1|alleles='A/C'|mol=cDNA|build=127
 CCATTAGCAT TTTAGGAAAT AGCTGCAAAA AAATATATGT TGTAATAGAT ATAGAAGACA
 CATGTTGAGC GTCATAGACT TGGAAGGGAT CCAGTTACTT GTCTTTGGAG AAAGTGAGAA
 ATGTATATGA CTGTTTCATG AATTCAGTTT
 M
 CAGATTTTTG CTTGAAGTTT TTTTGTGTGT TTTTGAATTT CTTATTACAG CGCAGCTTAT
 GATGCCATTC TTGAAAGAAA TGTTGCAATC AAGAAGCTAA GCCGACCATT TCAGAATCAG
 ACTCATGCCA AGCGGGCCTA CAGAGAGCTA

  GeneView back to top
GeneView via analysis of contig annotation: MAPK8 mitogen-activated protein kinase 8
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_017696->NM_002750
svfunction
referenceNT_017696->NM_139046
svfunction
referenceNT_017696->NM_139047
svfunction
referenceNT_017696->NM_139049
svfunction
HuRefNW_001837974->NM_002750
svfunction
HuRefNW_001837974->NM_139046
svfunction
HuRefNW_001837974->NM_139047
svfunction
HuRefNW_001837974->NM_139049
svfunction
CeleraNW_924685->NM_002750
svfunction
CeleraNW_924685->NM_139046
svfunction
CeleraNW_924685->NM_139047
svfunction
CeleraNW_924685->NM_139049
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_017696->NM_002750->NP_002741417308forwardintron
referenceNT_017696->NM_139046->NP_620634417308forwardintron
referenceNT_017696->NM_139047->NP_620635417308forwardintron
referenceNT_017696->NM_139049->NP_620637417308forwardintron
HuRefNW_001837974->NM_002750->NP_002741243583forwardintron
HuRefNW_001837974->NM_139046->NP_620634243583forwardintron
HuRefNW_001837974->NM_139047->NP_620635243583forwardintron
HuRefNW_001837974->NM_139049->NP_620637243583forwardintron
CeleraNW_924685->NM_002750->NP_002741240890forwardintron
CeleraNW_924685->NM_139046->NP_620634240890forwardintron
CeleraNW_924685->NM_139047->NP_620635240890forwardintron
CeleraNW_924685->NM_139049->NP_620637240890forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3730156 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
10NW_924685.124089043198736plusAalt_assembly_1CeleraCeleraview150
10NW_001837974.124358343877660plusAalt_assembly_8HuRefHuRefview150
10NT_017696.1441730849282850plusAref_assemblyreferencereferenceview150

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NM_002750
dbSNP Blast Analysis
GenBank HTGS Finished:
AC016397.6 NC_000010.9

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceHWPA
C
ss69365757PA131326192 62AF 0.968 0.032
ss69368830PA144608993 62AF 0.968 0.032

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.062+/-0.1650000

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

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Revised: May 25, 2006 1:38 PM .