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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7755579          
refSNP ID: rs7755579
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_014809.3:c.-106+7224C>A
NT_007592.14:g.15496991G>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 ss11802823 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7755579 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
ss11802823WI_SSAHASNP|chr6.NT_007592.13_15496991fwd/BG/Tcgggcgtggtggctccagcctgtaatcccacactttgggaggctgaggtgggcagatcac07/04/0310/10/03116Genomicunknown
ss12817320SC_SNP|NT_007592.13_15496991fwd/BG/Tcgggcgtggtggctccagcctgtaatcccacactttgggaggctgaggtgggcagatcac10/21/0311/17/03119Genomicunknown
ss19661110CSHL-HAPMAP|CSHL-HuDD-200402.chr6.NT_007592.13_15496991fwd/BG/Tcgggcgtggtggctccagcctgtaatcccacactttgggaggctgaggtgggcagatcac02/20/0403/04/04120Genomicunknown
ss22435236SSAHASNP|WGSA-200403-chr6.chr6.NT_007592.13_15496991fwd/BG/Tcgggcgtggtggctccagcctgtaatcccacactttgggaggctgaggtgggcagatcac03/21/0403/21/04121Genomicunknown
ss42830604ABI|hCV2463884fwd/BG/Tcgggcgtggtggctccagcctgtaatcccacactttgggaggctgaggtgggcagatcac07/18/0507/18/05126Genomicunknown
ss80037903HGSV|Cor18507_SNV_20070510.chr6_24746719fwd/BG/Tcgggcgtggtggctccagcctgtaatcccacactttgggaggctgaggtgggcagatcac11/23/0711/24/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7755579|allelePos=254|totalLen=1734|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 TACCTATATC AAAAGTTGTG TGATTAGAAA TAAAGCTATT GAATTTTAAA ATCCAGTGAA
 CTCAAATGGG AGCAATATCT GTGGAAATAA CCCAAAATGC AATTCAAGGA AATAAAAAAT
 TGGAAAATGC AAACAAATAA GAGTTGTAAA GTAATAAATG GTCCAACAGA CATCTCCTGA
 TGGCTTCAAA AGGAAATAAT AAAAAGAATT AGAAAGAGGC agccgggcgt ggtggctcca
 gcctgtaatc cca
 K
 cactttggga ggctgaggtg ggcagatcac aaggtcagga gatcgagacc atcctggcta
 acatggtgaa aacctgtctc tactaaaaat acaaaaaatt aaccaggcgt ggtagcgggt
 gcctgtagtc ccagctactc gggaggctga gacaggagaa tggtgtgaac ctgggaggcg
 gagcttgcag tgagctgaga ttgcgccacg gcactccagc ctgggcaaca gtgccagact
 ccgtctcaaa aaaaaaaaaa agaaTTAGAA AGAGGCAAGA TGTGAAGGGA tcagttgtaa
 gatgaataca tactagggat ctaaggtaca gcatggtaat tatagttaac aatcctgtat
 tgtatacttg aaatttgtta agagagtaga tcttaaatat tcctatcaaa cacaaacaaa
 caaagaaaca gtcaataaat aaataaatga ggtgatggat aggttcatta cctggtttgt
 ggtagtcatt tcacaatgta cacaaatatc aaaacatcac atctttcctg gtaaatacag
 ccaattttta tttgtcaatt ataccttcgt aaagctagag ggaaaaaata tgtaaagaga
 taatggcaaa caattttcta gaattgatga aagaaaaaaa aatccttata tccagagagt
 acaagaagtt ctgagccgga ttaaagtaaa tctattccta tgttcactga aatcaaactg
 tagaacaaca aagacaaaga gtagatccta taaggagcca gagacgaaag acagataatc
 ttaaaaggaa caatcatcag actgacagca atattttcat tggtaagaat agatgctagg
 aaataatgga aataaaatct agaaagtata gaggaacaaa aaCTGCCAAT CTAGAACTTT
 ATACTCACTG TTAGCACTCA AGAGTAATAA TAAAATAAAG GTTCTTTTAA GATAAAGACT
 GAGTTTACTA TGCATATATT CTTACTAAAA GAGTTACTAT ATGACATTTG GGGCTGGATG
 AAACTTTTAA AAAAAGAGTT ATTATAAGAA AAGCTggctg gacgcggtgg ctcacgcctg
 taatcctaac actttgggag gccaaggcgg gcagatcacg aggtcaggag tttcaaacca
 gcctggccaa catagtgaaa ccccatttct actaaaaata caaaaattag ccaggtgtgg
 tggcacgtgc ctatagtccc agctactcgg gaggctgagg caggagaatc gcttaaacct
 gggaggcgga gttgcagtga gccgagacca caccatttca ctccagtctg ggtgacagag
 tgagactcca tcttaaaaaa aaaaaaaaaa GTGCTGAACA GCAAGGATGA AAGAAGCATT
 GGTAAGTAAG AAACTGGCTA GCATGTTGGt aaataataat aaaatattat tCAAACTAAA
 ATGTCAAATA ATAATGAAGT GAAAGATGAC AGAGAGGGAA

  GeneView back to top
GeneView via analysis of contig annotation: KIAA0319 KIAA0319
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_007592->NM_014809
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_007592->NM_014809->NP_05562415496991reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7755579 maps exactly once on NCBI human chromosome 6
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
6NW_001838974.159897824588071plusTalt_assembly_8HuRefHuRefview253
6NT_007592.141549699124746719plusGref_assemblyreferencereferenceview253
6NW_922984.12426735325872097plusTalt_assembly_1CeleraCeleraview253

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007592
dbSNP Blast Analysis
GenBank HTGS Finished:
AL031775.1 CR925830.3 CR942205.4

  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 .