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: rs729269          
refSNP ID: rs729269
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
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_001039350.1:c.136-7367G>A
NT_034885.3:g.141476G>A
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 ss44819001 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs729269 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
ss73990TSC-CSHL|TSC0029949byFreqfwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat09/06/0004/07/0486Genomic95 %
ss4993657YUSUKE|IMS-JST166643rev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct08/12/0210/10/03108Genomicunknown
ss11878343WI_SSAHASNP|chr7.NT_034885.2_141476byFreqrev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct07/04/0304/07/04116Genomicunknown
ss17174406CSHL-HAPMAP|CSHL-HuAA-200402.chr7.NT_034885.3_141476rev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct02/17/0403/04/04120Genomicunknown
ss22522913SSAHASNP|WGSA-200403-chr7.chr7.NT_034885.3_141476rev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct03/21/0403/21/04121Genomicunknown
ss24463435PERLEGEN|afd4326981byFreqrev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct08/10/0409/13/04123Genomicunknown
ss44819001ABI|hCV1933025byFreqrev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct07/19/0511/03/06126Genomicunknown
ss66593970ILLUMINA|HumanHap300v1.1_rs729269fwd/TC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat11/09/0611/09/06127Genomicunknown
ss67565526ILLUMINA|HumanHap550v1.1_rs729269fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat11/14/0611/14/06127Genomicunknown
ss67944342ILLUMINA|HumanHap650Yv1.0_rs729269fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat11/14/0611/15/06127Genomicunknown
ss68368333CSHL-HAPMAP|wicgr:assay:hapmap_7q-rs729269:1rev/TA/Gatagtcacacatgaggaccacaaagcagatttatcattctcctgggccttatgtacatct01/11/0701/11/07127NAunknown
ss70921198ILLUMINA|HumanHap550v3.0__rs729269fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat04/20/0703/31/08130Genomicunknown
ss71521110ILLUMINA|HumanHap650Yv3.0_rs729269fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat04/23/0704/23/07127Genomicunknown
ss74824415AFFY|SNP_M-580127fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat08/09/0708/09/07128Genomicunknown
ss74925562ILLUMINA|ILMN_Human_1M_rs729269fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat08/28/0708/29/07129Genomicunknown
ss76767955AFFY|AFFY_6_1M_SNP_A-8629381fwd/BC/Tcccaggagaatgataaatctgctttgtggtcc08/28/0708/30/07129Genomicunknown
ss79253052ILLUMINA|HumanHap300v2.0_rs729269fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat04/18/0711/18/07130Genomicunknown
ss83536858KRIBB_YJKIM|KHS484661fwd/BC/Tagatgtacataaggcccaggagaatgataaatctgctttgtggtcctcatgtgtgactat12/04/0712/05/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs729269|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TCTGTGGCCT CAACCCAACT GTGGCACTGG GGCCCTGCAG TGGGAGATGC TGTTGAAACA
 CCCAAGCCCA CTGTCCACTG GAACCCCTGC CATGCTGCAG CCGGGGGGCC CTGCCATCCT
 GGAGTGGGGC ATGTGCTCTC TGACATGCTG GAGCGGGGCA TGTGCTCTCT GCCATCCTGG
 AGCAGGGCAT GTACTCTCTG CCATCAAACC TTGGTTCCTT CTTCCAGAAA ACTTTTACAA
 GGTAAATGCT CAGGTCTCCC AAACATACTG AGATGTACAT AAGGCCCAGG AGAATGATAA
 Y
 ATCTGCTTTG TGGTCCTCAT GTGTGACTAT CCAGCCCCCA CTAGTAAGTG ATGGGGACAC
 TCGCAGGCTT TTCCAGGACA GGCAAGGCCA CTGTCTCCAC TTCCTCCATG CTGCCCTGCC
 CTGGCGCCCT GCCTGGAAGC TCTGCCTGCT GGTGCCTCCT CTCCTGGGCA TAGCACAGGT
 GTGTTCCCTC CTCAGTCCAT CGATTCACTC TTCTCCTCAC CCAAATGCTC TGTTTTCGTT
 GGCATCTATC CAGATCCTGC CCTCTTGTAA GCCTCTGCTC AGCTCTCAAC CTTCCAGCAG

  GeneView back to top
GeneView via analysis of contig annotation: DPP6 dipeptidyl-peptidase 6
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_034885->NM_001039350
function
CRA_TCAGchr7v2NT_079596->NM_001936
function
CRA_TCAGchr7v2NT_079596->NM_130797
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_034885->NM_001039350->NP_001034439141476forwardintron
CRA_TCAGchr7v2NT_079596->NM_001936->NP_00192753776190forwardintron
CRA_TCAGchr7v2NT_079596->NM_130797->NP_57062953776190forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs729269 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
7NW_001839099.2597938148244533plusTalt_assembly_8HuRefHuRefview300
7NW_923796.1548549148929558minusGalt_assembly_1CeleraCeleraview300
7NT_079596.253776190153740622minusGalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view300
7NT_034885.3141476154143043minusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034885
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss11878343CHMJAsian 74IG 0.851 0.149
ss24463435AFD_EUR_PANELEuropean 46IG 0.652 0.304 0.043 1.000 0.804 0.196
AFD_AFR_PANELAfrican American 46IG 0.826 0.174 0.655 0.913 0.087
AFD_CHN_PANELAsian 48IG 0.708 0.292 0.439 0.854 0.146
ss44819001HapMap-CEUEuropean 120IG 0.733 0.233 0.033 0.527 0.850 0.150
HapMap-HCBAsian 90IG 0.622 0.333 0.044 1.000 0.789 0.211
HapMap-JPTAsian 88IG 0.818 0.182 0.527 0.909 0.091
HapMap-YRISub-Saharan African 120IG 0.783 0.200 0.017 1.000 0.883 0.117
AoD_Chinese 90AF 0.910 0.090
AoD_Japanese 90AF 0.850 0.150
ss73990TSC_42_AA 82AF 0.890 0.110
TSC_42_C 84AF 0.810 0.190
TSC_42_A 82AF 0.820 0.180

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.243+/-0.25033226090

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwith2hitwithHapMapFreq
Validated by: ILLUMINA
DoubleHit found by:  BCM_SSAHASNPNCBI
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 .