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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7510592          
refSNP ID: rs7510592
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_002745.4:c.609+289T>C
NM_138957.2:c.609+289T>C
NT_011520.11:g.1543581A>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 ss11339010 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7510592 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
ss11339010SC_JCM|chr22.NT_011520.9_1543581fwd/TA/Ggggcaacagagtgagactccatctcaaaaaaaaaaaaaattagccaggtgtagcggtgca07/03/0310/10/03116Genomicunknown
ss13358215SC_SNP|NT_011520.9_1543581fwd/TA/Ggggcaacagagtgagactccatctcaaaaaaaaaaaaaattagccaggtgtagcggtgca10/22/0310/31/03119Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7510592|allelePos=656|totalLen=1018|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=119
 GCACCTAACA GTGACAGCGA TAGGTAGGAC TTCAGGACAG CTGTCCAAGG AGTGAAACAC
 AGACCACTTA TGGTAACAGT GACTGGAGAG GCACACCCCC TCCTACTCTA CAACCGTCAG
 CACTATATCA GCTGAGGTAG AGAGGCTGAG CCCTAGGGCC CAGAAGTTCA ATGCCGAACA
 AAATTTAGAC AGCACCTTGG ggccaggtgt ggtggctcat ccctgtaatc ccagcacttt
 gcggggggcg tggggggtgc tgaggtgggt ggatccctta agctcaggag ttcaagacca
 gcctgggcaa catgcgacat aggaagacgc cctactttta caaaaaaaat ttaaaaatta
 gccagatgtg gccaggcaca gtggctcacg cctgtaatcc cagcactttg ggaggctgag
 gtgggcggat cataaggtca ggagatagag accatcccgg ctaacacggt gaaaccccgt
 ctctactaaa aaatacaaaa aattagccgg gcatggtggc gggagcctgt agtcccatct
 acttgggagg ccgaggcagg agaatggtgt gaacccagga ggcggagctt gcagtgagct
 gagattgtgc tactgcactc tgcctgggca acagagtgag actccatctc aaaaa
 R
 aaaaaaaaat tagccaggtg tagcggtgca ctctgtagtc ccagcaactc cggagactga
 ggtgaggagg gtcacttgag cccaggaggt tgagactggt aagccgtgat ggtgccactg
 cactccagcc tgggtgacag agtaacaccc tgtctcaaaa aaGACAGCAC CTTGTCTCTG
 GCCAGACAGG CAAACTCTCA ACGCAGAGGG AGACTTACGG CTTACTGCAA TGCATTCAGA
 AAGTTCTCTT ACTTACTGGA TTTCTTTTTA TGCAAACTTC ATCCTTACCT TGGAATTCAA
 CATAATTTCT GGAGCCCTGT ACCAACGTGT GGCCACATAT TCTGTCAGGA ACCCTGTGTG
 AT

  GeneView back to top
GeneView via analysis of contig annotation: MAPK1 mitogen-activated protein kinase 1
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_002745
svfunction
referenceNT_011520->NM_138957
svfunction
HuRefNW_001838745->NM_002745
svfunction
HuRefNW_001838745->NM_138957
svfunction
CeleraNW_927628->NM_002745
svfunction
CeleraNW_927628->NM_138957
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011520->NM_002745->NP_0027361543581reverseintron
referenceNT_011520->NM_138957->NP_6204071543581reverseintron
HuRefNW_001838745->NM_002745->NP_002736238274reverseintron
HuRefNW_001838745->NM_138957->NP_620407238274reverseintron
CeleraNW_927628->NM_002745->NP_002736236743reverseintron
CeleraNW_927628->NM_138957->NP_620407236743reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7510592 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_001838745.12382745111141plusAalt_assembly_8HuRefHuRefview655
22NW_927628.12367435970549plusAalt_assembly_1CeleraCeleraview655
22NT_011520.11154358120483012plusAref_assemblyreferencereferenceview655

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011520
dbSNP Blast Analysis
GenBank HTGS Finished:
NC_000022.9

  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 .