NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs6597072          
refSNP ID: rs6597072
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/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_018303.4:c.2381-1447A>T
NT_034880.3:g.441147T>A
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 ss10330575 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6597072 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
ss10330575BCM_SSAHASNP|chr6.NT_034880.2_441147fwd/BA/Tatctatatatattatatatatctatatatatatatatatctatatatattatatatatct06/29/0310/10/03116Genomicunknown
ss11257243SC_JCM|chr6.NT_034880.2_441147fwd/BA/Tatctatatatattatatatatctatatatatatatatatctatatatattatatatatct07/03/0310/10/03116Genomicunknown
ss22406912SSAHASNP|WGSA-200403-chr6.chr6.NT_034880.3_441147fwd/BA/Tatctatatatattatatatatctatatatatatatatatctatatatattatatatatct03/21/0403/21/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6597072|allelePos=308|totalLen=955|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=121
 TTGGGAAAGT TGAGATAGAG ATCAAGAACT ATAATCAACC TTTTGAACGG GCATTTGCAT
 ATTCCAAATA TAGAACTAGG TTTTGATTGT GTCACACACT ACGGTATACA AATAAGGACA
 CGGTTTTTCT TTTGAGGAGC CAATTTCATA TACAGATCAA TATCAAGGGC ATAGGTATAT
 ATCGAGatat atatagagac atatagatat acatatctat atatatctat atatctatat
 atctattggc tcctcaaaag atatatatat tatatatatc tatatatatt atatatatct
 atatata
 W
 tatatatatc tatatatatt atatatatct atatattata tatatctata tatattatat
 atatattata tatatctata tatattatat atatctatat atattatata tatctatata
 ttatatatat ctatatatat tatatatatc tatatattat atatatctat atatattata
 tatatctata tatattatat atatctatat attatatata tctatatata tatattatat
 atatctatat atattatata tatctatata ttatatatat ctatatatat tatatatatc
 tatatattat atatatctat atatattata tatatctata tatattatat atatctatat
 attatatata tctatatata ttatatatat ctatatatta tatatatcta tatatattat
 atatatctat atataatatc tatattatat tatatatatt atatatctat atattatata
 tctatatata tcgatatata tagaTAGata tatctatcta taaaagatat atatatctat
 aaaagatata tatatctcta tataaaagat atatctatct atgtatatat atTGGCTCCT
 CAAAACAAAA ACAGTGTGCT TATTAAGTCT ATTTTGCTGA GATGGCT

  GeneView back to top
GeneView via analysis of contig annotation: EXOC2 exocyst complex component 2
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_034880->NM_018303
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_034880->NM_018303->NP_060773441147reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6597072 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_001838972.23282590372274minusAalt_assembly_8HuRefHuRefview307
6NT_034880.3441147446147plusTref_assemblyreferencereferenceview307
6NW_922984.1124048..1240491728792..1728793plusTCalt_assembly_1CeleraCeleraview307

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034880
dbSNP Blast Analysis
GenBank HTGS Finished:
AL512308.19

  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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .