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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7520220          
refSNP ID: rs7520220
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_001098623.1:c.4586-1601C>T
NM_052843.2:c.4586-1601C>T
NT_004559.13:g.4652370C>T
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 ss11357936 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7520220 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
ss11357936WI_SSAHASNP|chr1.NT_004559.10_1963534fwd/BC/Tgtagttaccaactgcaagcctaacaaaagactttagatggtttgtggggggaaattatta07/03/0310/10/03116Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7520220|allelePos=1464|totalLen=1734|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=116
 GTACCGACAC TTAACATTGG TGTCACATCA GCATGTAGGA GTTCTTGGGG GTGTACAGAT
 GCCAGAAACC CCACTTTGTA GGTACTTGAA ATGTTGTTAT TTGAGAACAT GCCATTATTA
 TTATCATTAt tttgagacgg agtctcactc tgtcacccag gctggagtgc agtggtgcga
 tcttcgatct tgtctcactg caacctcctc atcctgggtt cgagcgattc tcccacctca
 gcctcccgag tagctgggac tacaggcgcg cgccaccata cctggctaat ttttttgtat
 ttttagtaga aacaaggctt cattatgttg accgggctgg tcttgagctc ctgacctcag
 gtgatccacc cacctcagcc tcccaaagtg ctctgattac aggtgtgagc caccatgcct
 aaccCTATAT TTATGCAAGT AAATTTGAAA AGTTTTGGCA AATTGATCAA TTTCTTcaaa
 actatatcaa aagtagaaat aggcaagttg aacagtccta taacctttta tagaaatgca
 acaaataatc atcttataga aggttacccc agtgctctac tgtaaactgt accaaatatt
 ctggaaagaa attattctgt gttcatagac attcctctag agtattgaaa aaggacctca
 gtgctctatc tcattttatg taggtaataa atatcattaa taccaagctc tgacagggtg
 aatatgaaga attaaaattg gtcaatctct tatcaatatc aaggctcact atcttaaact
 aaatatagca ccctgaattc agcaatttat caagaggata acacacaatg acaaaagtca
 tagtccagta atgcaaggat ggtttaacat gagaaacatt agaaaatcag tacaaaatgt
 gacattaaca gattgaaaga aaaacgaatg tgattactcc aatatggaga ctaaaagcat
 tggataaaat acaacatcAT AAATATGCCa aaaatatttg gaaaaattta gcatcaattc
 atgtcataca attcttaaca aactctaaat aaaaacattt ttccttaatt tcataagcaa
 tagtataaag aaaacaagct aacattacac aaacatgaaa ccttgaaagc gttgcctttg
 agattggaaa cagaacaagg acaccatcca tcaccacttc ttccaacatt gtaTAGCAGA
 Cagaggagga aaagaaagta caaggtggaa aacttggaaa ataaaacatg cacctcacag
 atgatatggt tattaattta gaaagcccca aaaaagtaat tattagtaag agatttggga
 atggttacca cataaaagaa tcaatataca gaaaacattt ctagatctat gtaccagaaa
 caagcagatg gaaaataatg ttttaagaga tttccagtac catccaaaat cttgtagtta
 ccaactgcaa gcctaacaaa aga
 Y
 ctttagatgg tttgtggggg gaaattatta aacattgttg agagacagta aaaaatatct
 caataaatgg TTAGAAAGCT GTAGGAGACC TGAAAGTGTA AATCCCAGTC AACCATAGTT
 CTGTTGGGTA AGAGAATGCT GACAAGCGCA TAGCAAAGGC CAAGCTGCCC TTGAGGAATG
 CAGTGTGGGG GCCTTTGCTG TACCAGACAG CAGGGTGTCC TCTAAAGCAG CAGTGCTCCA
 GATACCTGGA CCCAAAGGCA GGAAGAGATG

  GeneView back to top
GeneView via analysis of contig annotation: OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
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_004559->NM_001098623
function
referenceNT_004559->NM_052843
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004559->NM_001098623->NP_0010920934652370forwardintron
referenceNT_004559->NM_052843->NP_4430754652370forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7520220 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838544.1469026198965055plusCalt_assembly_8HuRefHuRefview1463
1NW_927128.14221419201640249plusCalt_assembly_1CeleraCeleraview1463
1NT_004559.134652370226516839plusCref_assemblyreferencereferenceview1463

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004559
dbSNP Blast Analysis
GenBank HTGS Finished:
AL353593.33

  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
with2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .