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: rs342709          
refSNP ID: rs342709
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_004466.3:c.1280+4080G>T
NT_009952.14:g.5502430G>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 ss43497851 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs342709 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
ss436381KWOK|OVLP-000621-342116rev/TA/Cagctgatgggtattataacctcccataaaaaggaaaacactctatcatccccaaatgtag06/30/0010/10/0379Genomic99 %
ss439484KWOK|OVLP-000621-348421rev/TA/Cagctgatgggtattataacctcccataaaaaggaaaacactctatcatccccaaatgtag06/30/0010/10/0385Genomic99 %
ss634133SC_JCM|AL353714.2_14510fwd/BG/Tctacatttggggatgatagagtgttttcctttttatgggaggttataatacccatcagct07/12/0010/25/0685Genomicunknown
ss1130370KWOK|OVLP-000804-362499rev/TA/Cagctgatgggtattataacctcccataaaaaggaaaacactctatcatccccaaatgtag09/02/0010/10/0386Genomic99 %
ss1131546KWOK|OVLP-000804-368486rev/TA/Cagctgatgggtattataacctcccataaaaaggaaaacactctatcatccccaaatgtag09/02/0010/10/0386Genomic99 %
ss1132161KWOK|OVLP-000804-370525rev/TA/Cagctgatgggtattataacctcccataaaaaggaaaacactctatcatccccaaatgtag09/02/0010/10/0386Genomic99 %
ss13178381SC_SNP|NT_009952.13_5502429fwd/BG/Tctacatttggggatgatagagtgttttcctttttatgggaggttataatacccatcagct10/22/0310/31/03119Genomicunknown
ss21139340SSAHASNP|WGSA-200403-chr13.chr13.NT_009952.14_5502430fwd/BG/Tctacatttggggatgatagagtgttttcctttttatgggaggttataatacccatcagct03/19/0403/19/04121Genomicunknown
ss43497851ABI|hCV3157395byFreqfwd/BG/Tctacatttggggatgatagagtgttttcctttttatgggaggttataatacccatcagct07/18/0511/03/06126Genomicunknown
ss69142977PERLEGEN|PGP13184363byFreqfwd/BG/Tctacatttggggatgatagagtgttttcctttttatgggaggttataatacccatcagct01/30/0708/14/07127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs342709|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 TGTGATATAG TTTTGTCAAA GAGTTAATAC ATATGCTTCA ATATTGAACT GCTGAATTTA
 TCTAGGAGAG TTTCTATACA AAGTCAAGTC CTGATCACTG TTACAATCTT AAATTAACCA
 CTTTCTCCTT GAGAAAAAAT GAAGTATAGC AGTGATCTGT GGTGAAAAGC TCTAAGCAAT
 CCTCACATGT GAGATTCATT TCAGAGACCT GCAGTTAGTT GAAGTAAGTA ATGCCATTCA
 GTTTTGAGGA AATGGACAAG TGAATGTATA CTACATTTGG GGATGATAGA GTGTTTTCCT
 K
 TTTTATGGGA GGTTATAATA CCCATCAGCT TCATTCTAGA GGAGTTAAGC CAAACACATC
 AATAGGTCAA ATTGGTGGCC AAGATTAAGT CTATTCTTCA TTATAAGAGT GAAGCAATTA
 TTTTGGCAAG ATTTCTTCTC CTGCAGGCAT TTTTAAAGAG GTGATTGATA TGATTATTTG
 TGTGCACAGA CATTCTTCAA AGACTAGGAG AGCCATACAG ACTATTTTAA TATCATGACA
 GTCCTGTAAA ACTGTGTGAA ATCACCTATG TGCTGATCAA AAGAGGTGGA ATTCCTTTGT

  GeneView back to top
GeneView via analysis of contig annotation: GPC5 glypican 5
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_009952->NM_004466
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_009952->NM_004466->NP_0044575502430forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs342709 maps exactly once on NCBI human chromosome 13
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
13NW_001838084.21994848873009279minusAalt_assembly_8HuRefHuRefview300
13NW_925517.1551316173259960plusTalt_assembly_1CeleraCeleraview300
13NT_009952.14550243091210755plusGref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009952 AC016459 AC027429 AC027429.2 AL157821.4 AL353714.2
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL157821.14 AL596221.3 AL353714.5

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss43497851HapMap-CEUEuropean 120IG 0.083 0.533 0.383 0.200 0.350 0.650
HapMap-HCBAsian 90IG 0.156 0.400 0.444 0.403 0.356 0.644
HapMap-JPTAsian 88IG 0.068 0.659 0.273 0.020 0.398 0.602
HapMap-YRISub-Saharan African 120IG 0.117 0.417 0.467 0.752 0.325 0.675
AoD_African_American 90AF 0.380 0.620
AoD_Caucasian 92AF 0.340 0.660
ss69142977HapMap-CEUEuropean 120GF 0.083 0.600 0.317 0.383 0.617
HapMap-HCBAsian 90GF 0.111 0.600 0.289 0.411 0.589
HapMap-JPTAsian 90GF 0.067 0.667 0.267 0.400 0.600
HapMap-YRISub-Saharan African 120GF 0.100 0.617 0.283 0.408 0.592
Concordant GenotypeTotal SampleG/GG/TT/T
ss434978512372513081
ss691429772372513181
RefSNP Genotype SummaryTotal IndividualG/GG/TT/T
rs3427092702513181
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
159ss43497851G/GCSHL-HAPMAPHapMap-CEUNA12146CEPH1334.12r23_ch13_CEU_illumina:golden_gate_1.0.0808294
159ss69142977G/TCSHL-HAPMAPHapMap-CEUNA12146CEPH1334.12chr13-HapMap-CEU
170ss43497851G/TCSHL-HAPMAPHapMap-CEUNA07000CEPH1340.10r23_ch13_CEU_illumina:golden_gate_1.0.0808294
170ss69142977G/GCSHL-HAPMAPHapMap-CEUNA07000CEPH1340.10chr13-HapMap-CEU
226ss43497851T/TCSHL-HAPMAPHapMap-CEUNA12044CEPH1346.12r23_ch13_CEU_illumina:golden_gate_1.0.0808294
226ss69142977G/TCSHL-HAPMAPHapMap-CEUNA12044CEPH1346.12chr13-HapMap-CEU
239ss43497851T/TCSHL-HAPMAPHapMap-CEUNA11882CEPH1347.15r23_ch13_CEU_illumina:golden_gate_1.0.0808294
239ss69142977G/TCSHL-HAPMAPHapMap-CEUNA11882CEPH1347.15chr13-HapMap-CEU
456ss43497851T/TCSHL-HAPMAPHapMap-CEUNA10838CEPH1420.01r23_ch13_CEU_illumina:golden_gate_1.0.0808294
456ss69142977G/TCSHL-HAPMAPHapMap-CEUNA10838CEPH1420.01chr13-HapMap-CEU
464ss43497851T/TCSHL-HAPMAPHapMap-CEUNA12003CEPH1420.09r23_ch13_CEU_illumina:golden_gate_1.0.0808294
464ss69142977G/TCSHL-HAPMAPHapMap-CEUNA12003CEPH1420.09chr13-HapMap-CEU
637ss43497851T/TCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16r23_ch13_CEU_illumina:golden_gate_1.0.0808294
637ss69142977G/TCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16chr13-HapMap-CEU
5135ss43497851T/TCSHL-HAPMAPHapMap-YRINA19128YOR077.03r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5135ss69142977G/TCSHL-HAPMAPHapMap-YRINA19128YOR077.03chr13-HapMap-YRI
5140ss43497851T/TCSHL-HAPMAPHapMap-YRINA19099YOR105.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5140ss69142977G/TCSHL-HAPMAPHapMap-YRINA19099YOR105.02chr13-HapMap-YRI
5149ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18524CH18524r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5149ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18524CH18524chr13-HapMap-HCB
5151ss43497851G/GCSHL-HAPMAPHapMap-HCBNA18558CH18558r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5151ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18558CH18558chr13-HapMap-HCB
5153ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18561CH18561r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5153ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18561CH18561chr13-HapMap-HCB
5176ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18621CH18621r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5176ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18621CH18621chr13-HapMap-HCB
5182ss43497851G/GCSHL-HAPMAPHapMap-HCBNA18577CH18577r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5182ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18577CH18577chr13-HapMap-HCB
5185ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18632CH18632r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5185ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18632CH18632chr13-HapMap-HCB
5188ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18635CH18635r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5188ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18635CH18635chr13-HapMap-HCB
5190ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18636CH18636r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5190ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18636CH18636chr13-HapMap-HCB
5191ss43497851T/TCSHL-HAPMAPHapMap-HCBNA18593CH18593r23_ch13_HCB_illumina:golden_gate_1.0.0808294
5191ss69142977G/TCSHL-HAPMAPHapMap-HCBNA18593CH18593chr13-HapMap-HCB
5223ss43497851T/TCSHL-HAPMAPHapMap-JPTNA18971JA18971r23_ch13_JPT_illumina:golden_gate_1.0.0808294
5223ss69142977G/TCSHL-HAPMAPHapMap-JPTNA18971JA18971chr13-HapMap-JPT
5231ss43497851G/TCSHL-HAPMAPHapMap-JPTNA18998JA18998r23_ch13_JPT_illumina:golden_gate_1.0.0808294
5231ss69142977T/TCSHL-HAPMAPHapMap-JPTNA18998JA18998chr13-HapMap-JPT
5239ss43497851T/TCSHL-HAPMAPHapMap-YRINA18505YOR005.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5239ss69142977G/TCSHL-HAPMAPHapMap-YRINA18505YOR005.02chr13-HapMap-YRI
5241ss43497851G/TCSHL-HAPMAPHapMap-YRINA18506YOR009.01r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5241ss69142977G/GCSHL-HAPMAPHapMap-YRINA18506YOR009.01chr13-HapMap-YRI
5251ss43497851T/TCSHL-HAPMAPHapMap-YRINA18523YOR016.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5251ss69142977G/TCSHL-HAPMAPHapMap-YRINA18523YOR016.02chr13-HapMap-YRI
5257ss43497851G/GCSHL-HAPMAPHapMap-YRINA18852YOR018.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5257ss69142977G/TCSHL-HAPMAPHapMap-YRINA18852YOR018.02chr13-HapMap-YRI
5260ss43497851T/TCSHL-HAPMAPHapMap-YRINA18855YOR023.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5260ss69142977G/TCSHL-HAPMAPHapMap-YRINA18855YOR023.02chr13-HapMap-YRI
5263ss43497851T/TCSHL-HAPMAPHapMap-YRINA18861YOR024.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5263ss69142977G/TCSHL-HAPMAPHapMap-YRINA18861YOR024.02chr13-HapMap-YRI
5265ss43497851T/TCSHL-HAPMAPHapMap-YRINA18914YOR028.01r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5265ss69142977G/TCSHL-HAPMAPHapMap-YRINA18914YOR028.01chr13-HapMap-YRI
5267ss43497851T/TCSHL-HAPMAPHapMap-YRINA18913YOR028.03r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5267ss69142977G/TCSHL-HAPMAPHapMap-YRINA18913YOR028.03chr13-HapMap-YRI
5273ss43497851T/TCSHL-HAPMAPHapMap-YRINA19101YOR042.03r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5273ss69142977G/TCSHL-HAPMAPHapMap-YRINA19101YOR042.03chr13-HapMap-YRI
5275ss43497851T/TCSHL-HAPMAPHapMap-YRINA19137YOR043.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5275ss69142977G/TCSHL-HAPMAPHapMap-YRINA19137YOR043.02chr13-HapMap-YRI
5281ss43497851T/TCSHL-HAPMAPHapMap-YRINA19172YOR047.02r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5281ss69142977G/TCSHL-HAPMAPHapMap-YRINA19172YOR047.02chr13-HapMap-YRI
5291ss43497851T/TCSHL-HAPMAPHapMap-YRINA19207YOR051.03r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5291ss69142977G/TCSHL-HAPMAPHapMap-YRINA19207YOR051.03chr13-HapMap-YRI
5304ss43497851T/TCSHL-HAPMAPHapMap-YRINA19154YOR072.01r23_ch13_YRI_illumina:golden_gate_1.0.0808294
5304ss69142977G/TCSHL-HAPMAPHapMap-YRINA19154YOR072.01chr13-HapMap-YRI
Genotype data submitted for270 samples from270 individualsIndividual with multiple genotypes submission:270

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
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 .