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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6675754          
refSNP ID: rs6675754
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:G
Clinical Association:unknown
HGVS Names
NM_004402.2:c.783-3936A>G
NT_004321.17:g.1111915A>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 ss20579437 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6675754 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
ss9847809BCM_SSAHASNP|chr1.NT_004321.15_1102909fwd/TA/Gccctctgtctctgccacgtggggacacagcagaaggcagccatctaccagccaggaggag06/27/0310/10/03116Genomicunknown
ss20579437SSAHASNP|WGSA-200403-chr1.chr1.NT_004321.15_1102909fwd/TA/Gccctctgtctctgccacgtggggacacagcagaaggcagccatctaccagccaggaggag03/18/0403/18/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6675754|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=121
 TCTGTTGGCA GCCTAATTTT CTGCCTTTTT AATGGTAGTT TTAGATTTTT CTCCTCCTCT
 TGGAAAATGA TAAGTATCTA GGTAGAGCTC TTTCTTTTGG ATTCTGCCTG GGACTTGTAT
 TCCTTGTGCT GAGGACACAC TTTTCTTTGG TTTTGGAAAA TGCTTCTGCG TTGATGAGGT
 GTGGCTTCTC TTTGATTCTG CCTGTGCGGT TTTCCGGGAG CGCCTGTTAG CTGTGTGTTG
 GACCTTCTCA TTCTGCTCTC CTCATGCTGT GCCTGCGTCT GGGCTGCTGT CTCACTGGGA
 CTTTCtgctg tggactccat catgttcccc aagattcgta tgttgaaacc ctaatcccca
 gtgtgactgc atcaggcgat aaggtctttg ggagataatg aaggtcatga gggtggggcc
 ctaatccact aggactggtg tccttagaaa atgggaaagg agctcactct ccctctgtct
 ctgccacgtg gggacacagc
 R
 agaaggcagc catctaccag ccaggaggag agcccttact agcacccggc gtgcgggcac
 ctgttcttcc agcctccagg actgtgagag agtaaatact cagtctgtgg tattttcctc
 tggcagctgg agcacactaa gacaCTCCTG TATTGTTCAG GAATTCTCTC TTCAGCTGTT
 CATATGTTCA TTCTGTCCGC TGAGTACATG CTTCCTTTTT TGGGTTCCTA AAGAGCCCAA
 AAGAAGTGCT TTTGGGTTCT TCATAAAACG AGCCTTTTTT ATGCCAGTCT GGTTTCATTA
 TTTCCATTTC TTTTTAATCA CTTTAATCAT TAATCATCCA TTTTAAGCAT ATTTGTTTTA
 CAGTCACATG CTAAAGCATT CAACCTTGCC CACaggtctg gcattcgttc ttgagccctg
 ggaggtaaac gccaatgcct tcaaatgtcc tgcctggtag gagtgtcttt gttcacctgg
 gggccttggg tcacTGGATA

  GeneView back to top
GeneView via analysis of contig annotation: DFFB DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)
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_004321->NM_004402
svfunction
HuRefNW_001838618->NM_004402
svfunction
CeleraNW_923572->NM_004402
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004321->NM_004402->NP_0043931111915forwardintron
HuRefNW_001838618->NM_004402->NP_00439347311reverseintron
CeleraNW_923572->NM_004402->NP_004393619691forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6675754 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_923572.16196913050365plusGalt_assembly_1CeleraCeleraview500
1NW_001838618.2473113091831minusCalt_assembly_8HuRefHuRefview500
1NT_004321.1711119153785995plusAref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004321
dbSNP Blast Analysis
GenBank HTGS Finished:
AL691523.6 NC_000001.9

  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 .