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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs5764051          
refSNP ID: rs5764051
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_015380.3:c.1364+426C>T
NT_011521.4:g.490312C>T
Links , Linkout

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 ss8018519 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs5764051 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
ss8018519SC_SNP|NT_011521.1_469773fwd/BC/Tcagaggacacgatcttgagaacccctctcttacagcagaggaacccaccttcttggcttt04/15/0310/10/03114Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs5764051|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=114
 AATCACATCC CACTCTCCAG TAATTTTATT TTGTTTTGGA CGTGGTTAAT TTCATTAGTG
 GCTTTTAAGC TTGAAGATTT TAAGAGAATT AAATAGTTGC AAAATAATGA AAACACATGT
 ATTTTCCTCC TTTGCGTTTT TCTCCATCTA GCTGGGAGGA GCAGGTGTGA AGCGTTCCCA
 CCCCCTCCCT CAGGTGCTTT GTGCTTATTG TTCCCAGGGT AGTGGGAGCC CCTGCCAGGG
 TCTGGCTGGA GGAATTGACA GGTGATTTGG TTCCTGTGTG CTGAAAACAG AAGGCAGTGT
 TTTGAGCAGT TGACTTTGCA GGCCAGGGTC TCTAGGAAAG TTGGGGTGAG TGAAGCTTTG
 TTCCTGACCA CAGAGGACAC GATCTTGAGA ACCCCTCTCT
 Y
 TACAGCAGAG GAACCCACCT TCTTGGCTTT TCTTCACCCC TTATTTTATT GAGGAAAGAT
 TCCCTAAATG TTACATGGGT GAATATGGTA TAGGGCTAGT TACACAGTTA TATAAACAAA
 TTCTATTTCT TACATGCATT GTGTAAAAtt tttttttttt ttgagacaga ctctcattct
 gtcgcccagg ctggtgtgca atagcacgat cttggctcac tgcaacctct gcctcccagg
 ttcaagagat tctcctgcct cagcctcctg agtagttggg attacaggca tgcgtcacca
 cacccggcta attttttgta tatttagtag agacagggtt tcaccatgtt ggtcagggtg
 gtgtcaaact cctgacctcg tgatctgcct gcctcagcct

  GeneView back to top
GeneView via analysis of contig annotation: SAMM50 sorting and assembly machinery component 50 homolog (S. cerevisiae)
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_011521->NM_015380
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011521->NM_015380->NP_056195490312forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs5764051 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_001838749.149976327340572plusCalt_assembly_8HuRefHuRefview400
22NW_927650.1147794528298312plusCalt_assembly_1CeleraCeleraview400
22NT_011521.449031242718045plusCref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011521
dbSNP Blast Analysis
GenBank HTGS Finished:
AL035398.19

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
HWPC
ss8018519HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 1.000 1.000
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
27021000

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

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Revised: May 25, 2006 1:38 PM .