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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4135203          
refSNP ID: rs4135203
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:108/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_003329.2:c.189+2250G>C
NT_008470.18:g.20332055C>G
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 ss15706024 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4135203 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
ss5587478EGP_SNPS|TXN-009444byFreqfwd/TC/Gaatgatgaggatactttctgagaaatgttagcaattttgttgtgcacacatagagtgtac09/29/0204/07/04108Genomicunknown
ss15706024SC_SNP|NT_008470.16_14672378byFreqrev/BC/Ggtacactctatgtgtgcacaacaaaattgctaacatttctcagaaagtatcctcatcatt11/17/0310/25/06120Genomicunknown
ss24209506PERLEGEN|afd4403416byFreqrev/BC/Ggtacactctatgtgtgcacaacaaaattgctaacatttctcagaaagtatcctcatcatt08/10/0409/13/04123Genomicunknown
ss43453528ABI|hCV31958314rev/C/Ggtacactctatgtgtgcacaacaaaattgctaacatttctcagaaagtatcctcatcatt07/18/0507/18/05126Genomicunknown
ss69300083PERLEGEN|PGP04403416byFreqrev/C/Ggtacactctatgtgtgcacaacaaaattgctaacatttctcagaaagtatcctcatcatt01/30/0703/31/08127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4135203|allelePos=600|totalLen=2142|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=127
 AGCAACTTGA TTTTTTTTTT TTTTTTTTTT TTTTTTTTTT TTTTGAGATG GAGTTCACTC
 TGTCACCTGG GGTGGAGTGC AGTGGCATGA TCTCGGCTCA CTGCAACCTC TGCCTCCCGG
 GTTTAAGCAA TCCTCTGTCT CAGCCTCCTG GGTAGCTGGG ATTACAGGCA TGCACCACCA
 TGCCTGGCTA ATTTTGTATT TTTACAAAAT TAAAACCCCA GTAGAGACGG GGTTTCACCA
 TGTTGGTCAG GCTGGTCTCG AACTCCTGAC TTCAGGTGAT CCACCCACCT CGGCCTCCCA
 AAGTGCTGGG ATTATCCACC ACGCCCGGCC TTGATTTTTA TTTGAAAGCA ATAATAGGTG
 CCAGATGCCA TGATAAGCCC TTTGCATGCA CTATGTCATT TAATCCTCAC GATAACTATA
 CGAGTATTTT TTATTAGCAC CCTCATTGAA CAGGTAATGG CACTGCAGCA CAGAAGGTAA
 AGTCAGTCTC TTGAGGCAGA CCAATGCACC ATACTGTACT GAGGACAGGT CTTCTTACTG
 CCTTTAGGAA GTACAGTCAT GCATCACTTA ATGATGAGGA TACTTTCTGA GAAATGTTA
 S
 GCAATTTTGT TGTGCACACA TAGAGTGTAC TTACACAACC TAGATGGCAT AGCCTCCTGT
 ACACCTAGGC TATGTGGTAA AGCCTGTTGC TCCTAGGCCA CAAACAGGTA AGGCATGTTA
 CTGTACTGAA TACTGTAGGC AGTTATAACA CAACAGTAAG TATTTGTGTA TCTAAACATA
 GAAAAGGTAT GGTGAAAACA TGATATGAAA GATTAAAAAA TGGTATGCCT TTATAAGGTA
 CTTGCCATAA ACGGGACTTG CAGGACTGAG AGGTGCTCTG GGCGAGTCAG TGAGTGGGTG
 GTGAGTGAAT GTGAAGGCCT AGAACCTGTA GACGTTATAA ACACTGTATG CTTACAAATT
 TTATTTTTAA AATTTCTTTT TTCAGCAATA AATTTATTGT AACTTTTTTA CTTTATAGTT
 TTTTTATTTT TTTAACTCTT TAACTCTTGT AATAACACTT AGCTTAAAAC ACGAATGCAT
 TGTACAGCTC TACAAAAATA TTTTCTTTAT ATCCTTAGTC TATAAGCTTT TTTTAAAAAG
 ACTTTTTAAA CTTTTTGTTA CAAACTAAGA TTCAAACACA TACATTAGCC TAGACCAACA
 CAGGGTCAGG ATCATCAGTA TCACTGTCTC CCATCCCCAC ATCTTGTCTC ACAGAAAGGT
 CTTCAGGGAC AGTAACATGC ATGGACCTTT CATCTCCTAT GATAACAGTG CCTTCTCCTG
 GAATGCTTCC TGAAGGGCCT GCCTGAGCCT GTTGTATAGT AACTGTCTTT TTAAAAAAAT
 AAGTAGGAGT ACACTCTAAA TTAATAATGA AATTAAAGTA AATACAAAAA CCAGTAACGT
 GGGTGTTTAT TATCAAGTAG TATATACTGT CCATAATTGT AGTGATATGC TTTTTTAAGT
 GAAAGCAAGT TTATTAAGAA AGTAAAGGAA CAAAAGAATG GCTATTCCGC AGGTAAAGCA
 GTCTGTAGTG GTATACTTTG TATGTAATTG CAGCGCAGAT TTGTTTGCAC CAGCTAATGC
 GATGGGCTAT GACATTAACC CATCACTAGG TGAGAGGAAT TTTTCAACTT CATTATAATC
 TTATGGGACC ACCACATATA TGCAATCTGT TGTCGATCTA AATGTTATAT GGTGCATTAC
 TATAGGTGTG CAAAGCACTC GAGGACTTCC GTATGACAGA GCTCCTCCTT CATGTCTGCT
 TGGTGCACCC TGATCACCCT GAATGTATCT TTTTTTTTTT TTTTTTTGAG ACAGAGTCTC
 ACTCTGTCAC CCAGGCTGGA GTGCAGTGGT ACCATCTCTG CTCACTGCAA CCTCCACCTC
 CCGGGTTCAA GCGATTCTTC TGCCTCAGCC TCCTGAGTAG CTGGGACTAC AGGCAGCCGC
 TACCACACCA GGCTAAATTT CAACTTTTTA GTAGAGACAG CATTTTGCCA TGTTGGCCAG
 GCTGGTCTCG AACTCCTCAC CTCAAGTGAT CCACCCGTCT TGGCCTCCCA AAGTGCTGGG
 ATTAGAGGCA TGAGCTACCG TGCCTGGCCT GAAAGTGTCT TT

  GeneView back to top
GeneView via analysis of contig annotation: TXN thioredoxin
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_008470->NM_003329
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_008470->NM_003329->NP_00332020332055reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4135203 maps exactly once on NCBI human chromosome 9
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
9NW_001839236.2676711082612631plusGalt_assembly_8HuRefHuRefview599
9NW_924539.11322217783512473minusCalt_assembly_1CeleraCeleraview599
9NT_008470.1820332055112050671minusCref_assemblyreferencereferenceview599

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008470
dbSNP Blast Analysis
GenBank HTGS Finished:
AL158158.14

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss15706024HapMap-CEUEuropean 120IG 0.050 0.233 0.717 0.251 0.167 0.833
HapMap-HCBAsian 90IG 0.333 0.600 0.067 0.100 0.633 0.367
HapMap-JPTAsian 88IG 0.500 0.409 0.091 1.000 0.705 0.295
HapMap-YRISub-Saharan African 120IG 0.033 0.167 0.800 0.150 0.117 0.883
ss24209506AFD_EUR_PANELEuropean 40IG 0.350 0.650 0.371 0.175 0.825
AFD_AFR_PANELAfrican American 36IG 1.000 1.000
AFD_CHN_PANELAsian 38IG 0.421 0.474 0.105 1.000 0.658 0.342
ss5587478PDR90Global 172IG 0.128 0.419 0.453 0.584 0.337 0.663
ss69300083HapMap-CEUEuropean 120GF 0.033 0.350 0.617 0.208 0.792
HapMap-HCBAsian 90GF 0.200 0.756 0.044 0.578 0.422
HapMap-JPTAsian 90GF 0.356 0.556 0.089 0.633 0.367
HapMap-YRISub-Saharan African 120GF 0.033 0.267 0.700 0.167 0.833
Concordant GenotypeTotal SampleC/CC/GG/G
ss157060242371287929
ss242095066932158
ss558747890113639
ss693000832371288029
RefSNP Genotype SummaryTotal IndividualC/CC/GG/G
rs413520342216713176
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
150ss15706024C/CCSHL-HAPMAPHapMap-CEUNA10846CEPH1334.01r23_ch9_CEU_illumina:golden_gate_1.0.0679582
150ss69300083C/GCSHL-HAPMAPHapMap-CEUNA10846CEPH1334.01chr9-HapMap-CEU
184ss15706024C/CCSHL-HAPMAPHapMap-CEUNA07034CEPH1341.11r23_ch9_CEU_illumina:golden_gate_1.0.0679582
184ss69300083C/GCSHL-HAPMAPHapMap-CEUNA07034CEPH1341.11chr9-HapMap-CEU
252ss15706024C/CCSHL-HAPMAPHapMap-CEUNA11839CEPH1349.13r23_ch9_CEU_illumina:golden_gate_1.0.0679582
252ss69300083C/GCSHL-HAPMAPHapMap-CEUNA11839CEPH1349.13chr9-HapMap-CEU
344ss15706024C/CCSHL-HAPMAPHapMap-CEUNA12716CEPH1358.11r23_ch9_CEU_illumina:golden_gate_1.0.0679582
344ss69300083C/GCSHL-HAPMAPHapMap-CEUNA12716CEPH1358.11chr9-HapMap-CEU
349ss15706024C/CCSHL-HAPMAPHapMap-CEUNA10861CEPH1362.02r23_ch9_CEU_illumina:golden_gate_1.0.0679582
349ss24209506C/CPERLEGENAFD_EUR_PANELNA1086171_IND_CHR_9
349ss69300083C/GCSHL-HAPMAPHapMap-CEUNA10861CEPH1362.02chr9-HapMap-CEU
400ss15706024C/GCSHL-HAPMAPHapMap-CEUNA10831CEPH1408.02r23_ch9_CEU_illumina:golden_gate_1.0.0679582
400ss24209506C/GPERLEGENAFD_EUR_PANELNA1083171_IND_CHR_9
400ss69300083C/CCSHL-HAPMAPHapMap-CEUNA10831CEPH1408.02chr9-HapMap-CEU
411ss15706024G/GCSHL-HAPMAPHapMap-CEUNA12156CEPH1408.13r23_ch9_CEU_illumina:golden_gate_1.0.0679582
411ss69300083C/GCSHL-HAPMAPHapMap-CEUNA12156CEPH1408.13chr9-HapMap-CEU
565ss15706024C/CCSHL-HAPMAPHapMap-CEUNA12801CEPH1454.01r23_ch9_CEU_illumina:golden_gate_1.0.0679582
565ss69300083C/GCSHL-HAPMAPHapMap-CEUNA12801CEPH1454.01chr9-HapMap-CEU
576ss15706024C/CCSHL-HAPMAPHapMap-CEUNA12812CEPH1454.12r23_ch9_CEU_illumina:golden_gate_1.0.0679582
576ss69300083C/GCSHL-HAPMAPHapMap-CEUNA12812CEPH1454.12chr9-HapMap-CEU
618ss15706024C/CCSHL-HAPMAPHapMap-CEUNA12872CEPH1459.09r23_ch9_CEU_illumina:golden_gate_1.0.0679582
618ss69300083C/GCSHL-HAPMAPHapMap-CEUNA12872CEPH1459.09chr9-HapMap-CEU
637ss15706024C/CCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16r23_ch9_CEU_illumina:golden_gate_1.0.0679582
637ss69300083C/GCSHL-HAPMAPHapMap-CEUNA12892CEPH1463.16chr9-HapMap-CEU
5141ss15706024C/CCSHL-HAPMAPHapMap-YRINA19098YOR105.03r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5141ss69300083C/GCSHL-HAPMAPHapMap-YRINA19098YOR105.03chr9-HapMap-YRI
5145ss15706024C/CCSHL-HAPMAPHapMap-YRINA19240YOR117.01r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5145ss69300083C/GCSHL-HAPMAPHapMap-YRINA19240YOR117.01chr9-HapMap-YRI
5149ss15706024G/GCSHL-HAPMAPHapMap-HCBNA18524CH18524r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5149ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18524CH18524chr9-HapMap-HCB
5154ss15706024G/GCSHL-HAPMAPHapMap-HCBNA18562CH18562r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5154ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18562CH18562chr9-HapMap-HCB
5160ss15706024G/GCSHL-HAPMAPHapMap-HCBNA18545CH18545r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5160ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18545CH18545chr9-HapMap-HCB
5166ss15706024C/CCSHL-HAPMAPHapMap-HCBNA18552CH18552r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5166ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18552CH18552chr9-HapMap-HCB
5179ss15706024G/GCSHL-HAPMAPHapMap-HCBNA18573CH18573r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5179ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18573CH18573chr9-HapMap-HCB
5180ss15706024G/GCSHL-HAPMAPHapMap-HCBNA18623CH18623r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5180ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18623CH18623chr9-HapMap-HCB
5187ss15706024G/GCSHL-HAPMAPHapMap-HCBNA18633CH18633r23_ch9_HCB_illumina:golden_gate_1.1.0679582
5187ss69300083C/GCSHL-HAPMAPHapMap-HCBNA18633CH18633chr9-HapMap-HCB
5193ss15706024G/GCSHL-HAPMAPHapMap-JPTNA18942JA18942r23_ch9_JPT_illumina:golden_gate_1.1.0679582
5193ss69300083C/GCSHL-HAPMAPHapMap-JPTNA18942JA18942chr9-HapMap-JPT
5207ss15706024G/GCSHL-HAPMAPHapMap-JPTNA18959JA18959r23_ch9_JPT_illumina:golden_gate_1.1.0679582
5207ss69300083C/GCSHL-HAPMAPHapMap-JPTNA18959JA18959chr9-HapMap-JPT
5209ss15706024G/GCSHL-HAPMAPHapMap-JPTNA18960JA18960r23_ch9_JPT_illumina:golden_gate_1.1.0679582
5209ss69300083C/GCSHL-HAPMAPHapMap-JPTNA18960JA18960chr9-HapMap-JPT
5226ss15706024G/GCSHL-HAPMAPHapMap-JPTNA18990JA18990r23_ch9_JPT_illumina:golden_gate_1.1.0679582
5226ss69300083C/GCSHL-HAPMAPHapMap-JPTNA18990JA18990chr9-HapMap-JPT
5227ss15706024G/GCSHL-HAPMAPHapMap-JPTNA18991JA18991r23_ch9_JPT_illumina:golden_gate_1.1.0679582
5227ss69300083C/GCSHL-HAPMAPHapMap-JPTNA18991JA18991chr9-HapMap-JPT
5234ss15706024G/GCSHL-HAPMAPHapMap-JPTNA18999JA18999r23_ch9_JPT_illumina:golden_gate_1.1.0679582
5234ss69300083C/GCSHL-HAPMAPHapMap-JPTNA18999JA18999chr9-HapMap-JPT
5240ss15706024C/CCSHL-HAPMAPHapMap-YRINA18504YOR005.03r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5240ss69300083C/GCSHL-HAPMAPHapMap-YRINA18504YOR005.03chr9-HapMap-YRI
5242ss15706024C/CCSHL-HAPMAPHapMap-YRINA18508YOR009.02r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5242ss69300083C/GCSHL-HAPMAPHapMap-YRINA18508YOR009.02chr9-HapMap-YRI
5261ss15706024C/CCSHL-HAPMAPHapMap-YRINA18856YOR023.03r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5261ss69300083C/GCSHL-HAPMAPHapMap-YRINA18856YOR023.03chr9-HapMap-YRI
5263ss15706024C/CCSHL-HAPMAPHapMap-YRINA18861YOR024.02r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5263ss69300083C/GCSHL-HAPMAPHapMap-YRINA18861YOR024.02chr9-HapMap-YRI
5282ss15706024C/CCSHL-HAPMAPHapMap-YRINA19171YOR047.03r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5282ss69300083C/GCSHL-HAPMAPHapMap-YRINA19171YOR047.03chr9-HapMap-YRI
5304ss15706024C/CCSHL-HAPMAPHapMap-YRINA19154YOR072.01r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5304ss69300083C/GCSHL-HAPMAPHapMap-YRINA19154YOR072.01chr9-HapMap-YRI
5307ss15706024G/GCSHL-HAPMAPHapMap-YRINA19145YOR074.01r23_ch9_YRI_illumina:golden_gate_1.1.0679582
5307ss69300083C/GCSHL-HAPMAPHapMap-YRINA19145YOR074.01chr9-HapMap-YRI
Genotype data submitted for431 samples from422 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
UNKNOWNUNKNOWNYES

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Revised: May 25, 2006 1:38 PM .