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: rs351704          
refSNP ID: rs351704
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:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001032998.1:c.170-4918G>T
NM_003937.2:c.170-4918G>T
NT_022135.15:g.32379182G>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 ss1987321 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs351704 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
ss446885KWOK|OVLP-000621-367330fwd/TA/Cacttagccaatgggacctaatagacatctaaaaacattccacccatcaaccacagattat06/30/0010/10/0379Genomic99 %
ss448297KWOK|OVLP-000621-371153rev/BG/Tataatctgtggttgatgggtggaatgtttttagatgtctattaggtcccattggctaagt06/30/0010/10/0385Genomic99 %
ss623504SC_JCM|AC025003.2_121483fwd/TA/Cacttagccaatgggacctaatagacatctaaaaacattccacccatcaaccacagattat07/12/0010/10/0385Genomicunknown
ss1120489KWOK|OVLP-000804-311240fwd/TA/Cacttagccaatgggacctaatagacatctaaaaacattccacccatcaaccacagattat09/02/0010/10/0386Genomic99 %
ss1121014KWOK|OVLP-000804-314218rev/BG/Tataatctgtggttgatgggtggaatgtttttagatgtctattaggtcccattggctaagt09/02/0010/10/0386Genomic99 %
ss1987051KWOK|OVLP-000925-83926rev/BG/Tataatctgtggttgatgggtggaatgtttttagatgtctattaggtcccattggctaagt10/06/0010/10/0387Genomic99 %
ss1987321KWOK|OVLP-000925-86925byFreqfwd/TA/Cacttagccaatgggacctaatagacatctaaaaacattccacccatcaaccacagattat10/06/0010/25/0687Genomic99 %
ss2319643TSC-CSHL|TSC0728554fwd/TA/Cacttagccaatgggacctaatagacatctaaaaacattccacccatcaaccacagattat10/20/0010/10/03111Genomic95 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs351704|allelePos=1511|totalLen=6043|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=111
 GCTGATGTCT CACGATCTGC TCACTACCAC CACTTCCCAC CTCATACAAT ATATTTCTAG
 AATATTTATG CAAAAATTAC CACAACTCAA CAAGCAGACT TCTCAGGTAT GACCCTTTTG
 CAGTATATTT Ttgttatagg agttattaag aaattatttt aggcagatag agatgaaaag
 gcgtccttgg gaagtttttg tttcttttaa agcagctcca gaaatgtttc ttgtctaaca
 ggaaagcccc ggctcttaga gcctgcaggc aagctttaat atgcaaataa aggccattag
 aaactgggtc caccaaacat ggtgatttcc cttgtcttcc tcttgtcccc acatgtgcct
 ggcaacatgg ctgccctcac atatccccac aactggtctc tagcacagtc agaacacaca
 caacatttat tgataaagtt caccatctta tacggacata gctcatgttg ccccaagata
 atgacaataa taacatcaaa gagaactgat cacagattac tattacagat ataataatga
 aaaagtttga aatattgtga gaattgccaa tatgtgccac agaaacacaa agtgagcaca
 tgttcttgga aaaatgatgc ctatagactt gctggaattg gagttgccac taacttttaa
 tttgtaaaaa atgcagtatc tgtgaagcac tctaaagaaa aatgcaGAGC TCCCCAGATA
 TGGGCAGTTT TCCAATCTGG AAAACAGGTg aggtgctcaa gatggctgac tagaagtagc
 tagtatatgc tgctctcatg gagagaaaac aaagtggtga gtaaatgcta cgacttcaag
 tagatcatct aagatgtcat gttgggattc aacaagaaag caagaggact cacagagaag
 agaggagcaa agccaaggac ttgcccacct gggaccagta cagacctggg gaaagttccc
 taagtcagga aagggttgat gagtgagagt tcccagggga tccaaacatc tgccatggac
 ctttgcaatc ctgggcatgg gagaagccct tgacctcagt ggaactccaa atcaacacag
 agaccagcct ggaatctttg caggggtacc acttaagccc agtggagccg cacaggcctt
 ggatccctga gcagctaggc atcagctgcc atagccccag tagaagcTAC TGTAATGGTG
 CCAAGGAGTG GCCagactgc ctaagccaat agcaataaaa caggtcaaag aagggcaata
 cataatgata aaatgttcaa tgcaacaaga atactaaact atcctaaata tatacatagc
 aaacactgga gcacccagat tcataaaaca agtacttcta gacctatgaa aagacttaga
 tggttaacaa tactagtagg gatttcaaca ccccaaagag agcattagac agatcatcaa
 gtcagaaaac taacaaagac attttagact tcaattcaac acttagccaa tgggacctaa
 tagacatcta
 M
 aaaacattcc acccatcaac cacagattat acattcttct cgtctgtgaa cagaacatac
 tctatgattg accatatgct tggagataaa gcaagtctca ataaattcaa aaaattgaaa
 tcataccagc catactttca gaccacagtg gaataaaagt agaaatcaat accaagaaga
 tctctcagaa gtacactatt acatagaaat taagcaactt actcctgaat gactttgggg
 taaacaataa aattaaggca gatatcaaaa aaaaatttga aataaatgaa aacagagaca
 caaccaacat gccaaaatct ctgagatgca gcaaacacag tattatgagg aaaacttata
 gtgctaagca cctacatcag taagttagaa tgatctgcaa ttcccaattt agtaacacac
 caagaggaac tagaaaagca agaacaaact aaccccaatg ctagtagaat aaataactga
 aatcaaagga gaaaacgaaa tcaactccta aatattcata aaaaggatca atgaaaccaa
 aagctgtttc tttaaaagga taaacaaaat cagcagacta ctatctagat taaaaagaaa
 aaaacagagg attcaaatat gcacagtcag aaacaacaaa gatgacatta caactaatcc
 tgcagaaata caaaagatcc agccgggagc ggtggctcca gcctgtaatc ccagcacttt
 gggagctgag gtggatggat cacgaggtca ggagatggag atgatcctgg ctaacatggt
 gaaaccctgt ctctactaaa aatacaaaaa aaaattagcc aggtgcagtg gcgggcacct
 gtagtcccag ctaatttgga ggctgaagta ggtgaatggc gtgaacccgg gaggcagagc
 ttgcaatgag ccgagatcgt gccactgcac tccagcctgg gtgacagagc aagactccat
 ctcaaaaaaa aaaaaaaaaa aaaaaaagga agaaagaaat acaaaagatc ccagctgggt
 gctgtggctc atgcctgtaa tcccagcact ttgggaggcc gaggtgggcg gatcacctga
 ggttgggagt tcgagaccag cctgaccaac atggagaaac tccatctcta ctaaaaatac
 aaaattagct gggtgcggtg gcacatgcct gtaatcccag ctacttggga ggctgaggca
 agagaatcgc ttgaacctgg gatgcagagg ttgtggtgag ccgagatcgc accattgcac
 tccagcctgg gcaacacgag tgaaactcca tctcaaaaaa aaaaaaaaaa aaaaaaaaag
 aaatacaaaa gatccttaga gactcttatg aacactttat ccatgaaaac tagacaatct
 gaaggaaata gataaattcc tggaaagata caacctccca agactaaacc aggtagaaac
 taagaccctg aacattccaa tagagtttca acttgaatca gtcataaaat cttaccaacc
 aaaaaaagtc ctgtgccaga tgaattcata gccaaattct atcagactta caaagaagag
 ctggtaccaa cactgctgaa actatcccaa aaaattaagg agggggtgac tcctccccga
 ctcattctag gaagccagta tcactcgata ccaaaatctg ccaaagaaat aacaacaaca
 acaacaacaa caaaattacg ggtcaatatc cccattgaag caaaaatcat caacaaaata
 ctagcaaacc aaatccagaa gcacatgaaa aagttatttc accacattca agtaggtttt
 attcctggga tgcagaattg attcaacaca tgtaaatcca taaatgtgat tcaggatgta
 aagataattg agaacaaaaa ccatatgatc atgtcaatag atgtagaaaa agctttcagt
 aaaatccaat atcccttcat gataaaaacc ctcaacaaac taggcatcaa aggaacatac
 cgcaaaacaa taagagcgat ctatggcaaa ctcacagcga acatcatact gaatgaataa
 aagctggagg tattctcctt aagaactgga acaaatcaaa gatatctccc actcctactc
 aatatagtac cggaaatctt agccagggca gtcagtcaag agaaagaaag aaaaggaatc
 taaatagaaa aaaaattatc tatctttact aatgataaga ttctatacct agaaaaccct
 aaagactcca ccaaaattct cctagaactg ctacacaatt tcagtaaagt ttcagaatat
 aaaatcaaca ttaaaaaatc aggagcattt ctatatgcca agaatgttta agctgagagc
 caaatcaata atacaatccc atttgcaaca gcgaaaaaac agtaaaacac taagaaatac
 atctaaccaa ggaggtgaaa gctctctaca aggagaactc caaagtactg ctcaaagaaa
 aattatagat gacacaaata gaaaaacatt ccatactcat ggattggaag aatcaatatc
 atgaaaacca ccatattgct caaagcaatt tatagattca aagctattcc tatcaaacta
 cctatgtcat ttctcacaga aatagaaaaa tctattctaa aattcgtatg tgaccaataa
 agagcctgaa tagccaaagc aatcccaagc aaaaagaaca aggctgatgg catcattacc
 tgacttcaaa ctacaaggct acaataacca aaacaccatg gtactgggac caaaacatat
 acatagacca atagaacagg ttagagaacc cagaataaag ccacatatct acaacagtct
 aatctttaac aaagttgaca aaaacaagca atggggtaag aactcttatt caataggtgg
 tgctgggata accagccaga aatatgcaga agaatggaac tggaccccta cctttcacca
 aatacaatta ttgactcaag atggataaga ctaaaatgta agacctaaaa ttataaaatt
 cctagaagaa aacctaggaa atatcatcct ggacagtggc tttgacaaag gatttgtgac
 tgagtcctca ataacaattg caaaaacccc ccaaactgac aagtgggacc taattaaact
 aaagagcttc tgcacagcaa aagaaactat cagcagagta aatagacaac ttacagaatg
 ggagaagata ttcacaaact attccttgca aatatttaat atccagactc tataaggaat
 ttaagcaatt cgacaagcga gaaacaaata accccattaa aaaatgggca aagaatagag
 gcagaggcgg gcagatcacg aggtcaggag attgagacca tcctggcaaa cacagtgaaa
 ccccgtctct actaaaaata caaaaaatta gccaggtttg gtggcagagg cctgtagtcc
 cagatacttg ggaggctgag gcaagagaat cgcttgaacc tgggaggtgg agattgcaat
 gagccgagat cacaccactg cactccagcc tgggggacag agcaagactc tgtctcaaag
 aaaaaaaaaa aaaaaaaaag gcaaagaaca tgaatagaca cttcttgaaa gaagacatac
 atacagccaa caaatatatg aaaaaatgct caacatcaat aattgttagt gaaatgcaaa
 tcaaaactgc aatgagatac catctcacac cagtcagaat ggctattact aaaacatcaa
 aaaataacag atggtgacaa ggttgcaaag aaataaaaca cttatacatc attggtggga
 atgtaaatta gttcagccac tgtggaaagc agtgtggaga tttctcaaag aatttaaaat
 agaactacta tttgacccag caaccccatt accaagtata tacctaaaga aaaatacatt
 gttctactag gaaaacacaa gcatttgtag attcattgca gaactattca taaaagcaaa
 ggtatgaaat tattctagat gcctttcaat ggtggattgg ataaagaaca tgtggtacaa
 atacaccaag aaatactaca tagccataga aagaatgcaa tcatgtcatt ttcaacaaca
 tggatgcagc cagaggccat tatcttaaat gaattaatgc atgatcagag aactgcatac
 tatatgttct catttttaag tgggagctaa catttggtac atatagctat aaagggagga
 actatactac ctattgggta caatgttcac tacttgggta acagggtcat ttgtactcaa
 aaccttggca tcacacagtt tacccatata acaaacttgc acatatatcc catgaaccta
 aaatataaGT TGAAATTAAA AAAAAAATAC AAACAGCAAA GTGCAGTAAA ATGAGTTATG
 CCTGTATGTC CCTTTAATAT ATTCATTGTT GGCATCCCAA TAAAGCTAAT TTTAATCTGA
 ATTGTAATTA TGTTAAAGTC TTTGTGTAAA GGCTTATATC TTCTACAAAT ATGGATTACC
 TATCATAATG ACTTCCACAA AAAAAAAAAC TT

  GeneView back to top
GeneView via analysis of contig annotation: KYNU kynureninase (L-kynurenine hydrolase)
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_022135->NM_001032998
function
referenceNT_022135->NM_003937
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_022135->NM_001032998->NP_00102817032379182forwardintron
referenceNT_022135->NM_003937->NP_00392832379182forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs351704 maps exactly once on NCBI human chromosome 2
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
2NW_001838859.26026986135662370plusCalt_assembly_8HuRefHuRefview1510
2NW_921585.111573483137383680minusGalt_assembly_1CeleraCeleraview1510
2NT_022135.1532379182143387730minusGref_assemblyreferencereferenceview1510

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC025003 AC012547 AC013444 AC025003.2
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss1987321HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 0.089 0.911 1.000 0.044 0.956
HapMap-JPTAsian 90IG 0.022 0.022 0.956 0.001 0.033 0.967
HapMap-YRISub-Saharan African 120IG 0.017 0.133 0.850 0.343 0.083 0.917

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.078+/-0.18127021000

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

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 .