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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs3765265          
refSNP ID: rs3765265
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/129
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_022092.2:c.825C>T
NP_071375.1:p.D275D
NT_037887.4:g.780597C>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 ss86342380 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3765265 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
ss4951305YUSUKE|IMS-JST119382byFreqfwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag08/07/0210/10/03107Genomicunknown
ss66778999ILLUMINA|HumanHap300v1.1_rs3765265fwd/TC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag11/09/0611/09/06127Genomicunknown
ss67300896ILLUMINA|HumanHap550v1.1_rs3765265fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag11/14/0611/14/06127Genomicunknown
ss67705657ILLUMINA|HumanHap650Yv1.0_rs3765265fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag11/14/0611/14/06127Genomicunknown
ss70779532ILLUMINA|HumanHap550v3.0__rs3765265fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag04/20/0703/30/08130Genomicunknown
ss71355832ILLUMINA|HumanHap650Yv3.0_rs3765265fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag04/23/0704/23/07127Genomicunknown
ss75769377ILLUMINA|ILMN_Human_1M_rs3765265fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag08/28/0708/29/07129Genomicunknown
ss79165780ILLUMINA|HumanHap300v2.0_rs3765265fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag04/18/0711/18/07130Genomicunknown
ss84175025KRIBB_YJKIM|KHS650648fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag12/04/0712/06/07130Genomicunknown
ss86342380CANCER-GENOME|34980fwd/BC/Tccctgaggaggagccgactgacggtcaagagcctccagtcactgcctctgggtggatgag01/25/0801/25/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3765265|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CAGGTGACTT GGTTGGCCCT TCCGCCCTGG GGACCCTTGT TGGCTCTTGC ACCAACTCCT
 AGCTCCTAGC GTGTGGGTTG GCATGGTCCC TGCGAGTTGT TTGTGGCTCA GGACGTGGTC
 CTCTCCAGTC TCAGGTCGGG GGAGGAGGAG GCAGCCCAGC CCTTGGGGGC CCCTGAGGAG
 GAGCCGACTG ACGGTCAAGA
 Y
 GCCTCCAGTC ACTGCCTCTG GGTGGATGAG TTTGCACCCC GCCACTACAC GGAGCTGCTC
 AGTGATGACG TGAGGTCTTG TTCTCACTCA AGTGTGGCTG GCTTCCTCTG TTCCCAAGAT
 GGAAGAACCT GGGCCCAGTG ATTTTTGCAC AGCCAATCCA CTGGGCCTCG GAGACGGAGT
 GGGCTCTGGT TTGCCCTTTT

  GeneView back to top
GeneView via analysis of contig annotation: CHTF18 CTF18, chromosome transmission fidelity factor 18 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_037887->NM_022092
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_037887->NM_022092->NP_071375780598forward888synonymousTAsp [D]3275
contig referenceCAsp [D]3275

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs3765265 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_001838339.21861447762570minusGalt_assembly_8HuRefHuRefview60
16NT_037887.4780598780598plusCref_assemblyreferencereferenceview60
16NW_926018.17561331040483plusCalt_assembly_1CeleraCeleraview60

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000016.8
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:GenBank mRNA:
NM_022092.2 AL031033.5 AK024476.1 BC006278.2 BC006437.1 BC018184.1
UniGene Cluster ID
153850

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss4951305JBIC-allele 1118AF 0.743 0.257
HapMap-CEUEuropean 120IG 0.900 0.100 0.752 0.950 0.050
HapMap-HCBAsian 90IG 0.444 0.444 0.111 1.000 0.667 0.333
HapMap-JPTAsian 90IG 0.644 0.311 0.044 1.000 0.800 0.200
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.224+/-0.24927021000

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

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Revised: May 25, 2006 1:38 PM .