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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7590594          
refSNP ID: rs7590594
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:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_144711.4:c.-3+18073G>T
NT_005403.16:g.20781532G>T
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 ss11494515 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7590594 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
ss11494515WI_SSAHASNP|chr2.NT_005403.13_20731452byFreqfwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc07/03/0304/07/04116Genomicunknown
ss19439919CSHL-HAPMAP|CSHL-HuDD-200402.chr2.NT_005403.14_20781531fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc02/20/0403/04/04120Genomicunknown
ss23942512PERLEGEN|afd4002689byFreqfwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc08/10/0409/13/04123Genomicunknown
ss41715956ABI|hCV2916083fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc07/17/0507/17/05126Genomicunknown
ss66395802AFFY|SNP_A-2078209byFreqfwd/BG/Taccagtgctaggacccctgtgacccactgtac10/29/0603/31/08127Genomicunknown
ss66818506ILLUMINA|HumanHap300v1.1_rs7590594fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc11/09/0611/09/06127Genomicunknown
ss67803324ILLUMINA|HumanHap550v1.1_rs7590594fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc11/14/0611/14/06127Genomicunknown
ss67974353ILLUMINA|HumanHap650Yv1.0_rs7590594fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc11/14/0611/15/06127Genomicunknown
ss70936100ILLUMINA|HumanHap550v3.0__rs7590594rev/TA/Cggtccccgactaatgtacagtgggtcacaggggtcctagcactggtagatactggtgcag04/20/0703/31/08130Genomicunknown
ss71538861ILLUMINA|HumanHap650Yv3.0_rs7590594fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc04/23/0704/23/07127Genomicunknown
ss75821901ILLUMINA|ILMN_Human_1M_rs7590594fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc08/28/0708/29/07129Genomicunknown
ss76140584AFFY|AFFY_6_1M_SNP_A-2078209fwd/BG/Taccagtgctaggacccctgtgacccactgtac08/28/0708/30/07129Genomicunknown
ss79262066ILLUMINA|HumanHap300v2.0_rs7590594fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc04/18/0711/18/07130Genomicunknown
ss84685687KRIBB_YJKIM|KHS779296fwd/BG/Tctgcaccagtatctaccagtgctaggacccctgtgacccactgtacattagtcggggacc12/04/0712/07/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7590594|allelePos=4025|totalLen=6445|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 GGTTTTTGTT TTACTGTAAT TTAAAACCAT TTGGGGGTCA GCCTTtgtcg tgttcagtgt
 caggttccag cccaactgag ggctgaggga gtgggtggat gtggggcagg gagctggaag
 aacactcgag agacaccagg tagatgagac atggccttat tcagcagccc ccacacctgc
 agctgcatgg ccagctctcc cttggcttca gggtcagtag cttaactgtt tctctgggca
 caagtgagcc aagctgtgtc ctggctcccc caccgtctgt ctgcaaagga cggctctgac
 tctctctccc agtgcaccag cacaacgtca acagggcaat catacatttt acagacaata
 gtggcataga gccaactgat ggccttccca tgtatggcta catggctgtg ataacaagtg
 gagttatatg cctgcgctct aaacctgctg agtcacacag gatgtaaaca tcctacctcg
 gcctatcctt aaccaaagca cagccatgtt ccttacaCTC CACCCCCTAG GCCAAGGGAG
 ACATAGGCCT TGGATACAGG TTATATGCAT AAGCTTTGGG TACATAGGCT TGATATACAC
 ACACAAGGCC TTATACATAA GTTTTGGGCA CACGAGTTTG ATAAACAGGC TTGGCACACA
 GGCCTTACAT tccaccccct ggaatgaggg agttctttta gtggggatcc atgcacatag
 ggcagcaccc tgaactcata ggtcacaaca acaatacaga gaacaacaac ctactataaa
 tattcctgtt acgttaccta tgattattag agcccagcat agggtagtgc ccagaggcac
 ccactgtctc tgcagagggt catcagtaag gtgctcaata gccttaatct cctgtgacac
 cccttgtaaa gctaccatta tgttctagtg gatgtcaggg ataaatgtac aaaattgtgt
 ccctccaagg gcacaggtgc caccctgagc aactgtgact atgtttaagg ccatccgatt
 ttgcagcacc accttcctga tctgatcaac ctcatcagtt agcaaaagga gagcaactcg
 ggtgtaattc agggcccgag ctgtgtgctc tgcaagggct gtaacttgca tttctatagt
 aacgacacct gctccaggga tagttattgc taaggggtgg agccaccaga gggtggcaaa
 aactgggaac gcagtgcctc ccagttattc gggcaactag gcaatgtggg aagcacagtg
 gcaggcacag aaaaccaccc ccaagtaaaa catccagtcc aattggctgg tagatatcgc
 catttggttt atgggcccca cagacccata aactctcagg gggcacaaag tccattggag
 cccagccttg gtaaggccgc ttgttccaca acacccttgg tgtggtgaca tgttatgttt
 gcacaaacct cagcaggcca ccatcccaca gtgacttcac cccagtgctg ctctatgcat
 cgtggtacct gcgatggggg caccacgtgt tctcccatta gccagcccca cccatcatag
 acactacgag tcagccaggg ggcaggcttg ccatgggttt tgcgacaccc cctgtccaaa
 gcctgccgtg ttgcatccca ccaattgtct gtggaaccac aagtttctag tcgtgtccag
 tttttcacag aagctgggtg catgtgccag ggcaagccat ccacagctgc tgctggaagg
 gtagtacaga tccaacagtt ggagacattg gtcacctcag cgtaggtgtg ggcccagtcc
 acaatgcagt tggagcatgc caacctacgg ccagaatgac aaagtaggca cagatactaa
 caagggtaaa tcatgtccct taggccaaat gcaagccaac ttttatctct agataacaat
 gtagctgcca agggcttctg ccctgggtga tggtaccaca ccttatcagc tgcttgtggt
 tcttttgggt cctgtatcca tgccaaagtc acaagggagc tcataatagg ccacacagac
 agtacatatg ttccccccac cagaggaggg ttcctttcct ggctattccc ctacgaacag
 tcaatcatgg aggccacaca ttaaataccc agggaataac atataagtca tactgcagac
 cctcccccaa gggggctatg atagccaacc atctgcagtg aggggcttgg agggtccatg
 gctaacacca ggttttgttt gtttgtttgt ttccctacct ttaggggcat tggggcaggc
 aataacagat tgccgtttgt ccccatacct ggttggagag ggtcatcctt CCtctcatag
 atctggccac atggcctggc cctacatggg ctggtgacta actaattctg taactttcag
 gtaattaacc acaatgttaa gcgttgataa actgcccagc attggtgtag attaccatgg
 gtgtcacctc cttggtgatc ctcatccgtg ttgccctgag ctcaacttat tagctacttt
 gcccactctt ggtatcaaac catataatgt cagtagtagg ctggactgca gcagcaatcc
 aggcagcagc agtactctgg ctagacctgt ctatatatta tgcctcatca ggaatggggc
 cgggggtgcc tcaggctcca tggccttatc ttgcatgagg actacaggcc ctaagacctc
 ttgtaactct gctgctaagg gacttgtatt cagtgtactt cactgctcta agtaggtgcc
 ccactttgat aaagtgctgt cccagtctgt gctgtcccag tctggaaggg tcgctaccca
 tgaacgtagc agccatcctg ctattgggta agtcatctgc atgatgactg tagcctgttc
 tgccatgctc ttatgagtct gaagggcagc atatgcagtt actaactgct tcccagtcca
 gggggtcatt atccatgaac atacccatcc tgctattact aactgcttct ctatcaataa
 agacaagctc agctccatag ttggggccaa aagcctactg gcatactcaa gcactccgtg
 cactgctata ggccctaact gaaactatct gtggtcacat gcacatctag cctaaatggg
 cacctctgat caactaccca tagggcttgt gcctgctaaa tagcctgctt gagatagcca
 ggacagctgt ctcaacctca ccatccaatc ccaggcaaga ggggcattgt cgctttcaaa
 tctgcaagat aatcggaggt taatatgaca ttatcaataa aacgatgaca catggtgggg
 ctatgcatct agccctgcag caacactgtg aaagtccatt gtcatcctcc catgaaggca
 agctgttcgt ggctctctgg agcaatgtca gtggagaaga atgcattatt cacattcatc
 acagagtagt actgtcccag ttccgttgtc aagcggttca tcaaatccat gatggagggt
 acagctgcat gctgagaggg tgttacttta ttcagttccc gataatccac tggtattcgc
 ccagttccat caggctttct gactggccat accagggaat tgtaggggct atgggtgcca
 tgcactattt gcacctcctc taacttctga atagtctcag ttatggctgt atgcccccct
 gacaaacagt attgatgagt ggaggtatcc tgttggggtt gtggcagagc ttgggctggt
 gatgtgtatt gtccctgcag tatcagcttt actgcactaa ctcagagcct gaattctcca
 gccatggtgt gcaagtccag accatgcaaa atgtccactg ccagaatata ttcaggtatg
 agagagacat acacagtgta taggcggaga gccaagtggc tgatgccaag ataaagagac
 acaggtttca ctttcactga ccagctttca tagctggtaa taaatgcagc tctgccagaa
 aacttatccg ggttcccata aactaggctg cagtctgcac cagtatctac cagtgctagg
 accc
 K
 ctgtgaccca ctgtacatta gtcggggacc agcggattac tagcaccaca tacagcctct
 ggttgtctgg ttccccacac cgagctgcat atctcagcca gttccctaat caaacaagaa
 aggctccata tctccgcctg tctgcaaaca gtccttgagt tgcggtgtcc aggcgggagt
 gggttgaaca acattgcttc accccccatt taagcattct ccggaattgc tgctctgggg
 acagttgcct ccaaagagcc aagagcattc cattgggttg cctgttagtt ttctccggag
 caaccccagc tgcaagtaaa tcaatccaca tctgcatgca ggtcacctgc caggctgctt
 tttatcacat gggatggtta tctgcggagg gggcaccttc cccttctttc tggcacgggt
 tccccggtcc agctgatgcc ttctgcctcc cccaggactg ccataacagt agtcacttca
 tgtatgtggc accccacata tggggtgaga acagcagcta gagagtcaaa agcactcggg
 ggcaatgagc ccagcacaag actcctcatg tgcgaggtaa agtgttcatc atctggtccc
 cgggtgttta gatcaaacag cctgctgcat acccagctct cagagtatct gcaccaaatt
 agtatatgac tgccatttac tcacagtttc tggtatcttt ctggcgtcat tccaaacagt
 ccatatggct gccattagcc actcgattaa cgtgtggtca tcctgccctt gtgctaactg
 tccacacagc tgcagctgct gatgaaggga gggatgagtt gtgatagaat ccagcttctc
 cctctcagag gcagagcaag aaatgctgtc agttccctag gatactgccg acactgttta
 cctaattcct gcaactcagt gggggtataa acactataag aggtgtgttc caccactgtg
 tggccagggg ataggggtgg gggtccctgg gctctcccct ggggtcccat cagctgctca
 tggtctatct tctgatggat cacagggcga gcccgcagca gagaagctgc ctcctcctca
 gcatcagacc caatgggagt gtccggccag gaggactggc tgaaggtcgc gctgacagct
 gttgctaact cctgttccag gttgtttatc tgggcctcta agcgccctgc ttgcacatgg
 aggtccctct ccacacaccc caccccccca ccccgcccca ggttttgctc caagctgtgc
 atttgggctc ccgggcactg ggcttgtgcc tgaaagtccc ttacctgtgc tgtgtcctgc
 agggactgag catgaaactc agtttctgac tgaatcagaa acgcccatcc gactctgccg
 gcaaaggtca ttccttcttg gtgctgtgag cttccagatg cttctccaca ctcatgggag
 acccattcac tgcctcccac gtttccactg gggcctaccc gagcagcatc tctgccacgg
 ggtaccacag cccatgctgt ggccacatag ccaacccggg agcctcaggg gctgaagacc
 tactcacctc atcctgctga ctaCACCAAG TATgctcagg gttaggttcc agccccagct
 gagggctgag gggagtgggt ggatgtgggg caggaaactg gaagaacact agagagacag
 caggtagatg agacatggct ttattcagca gcccccacac ctgcagctGC Atggccgtct
 gcaaagacag acagctctga ctctgtcttt ctctgggtgc cagcatgcct gcacagtgtc
 aacagggcat ttatagcttt tacagacaat agtggcgtag agccaagtga tggccttccc
 gtgttttgac tacatggctg tgataacaag tggagttata cgcctgtgct ctaaactcac
 tgagtcacac aggatgtaaa catcctactt tggcctatcc ttgaccaaaa tgcagccata
 tttcttacaG CCTTGTTTGC CATTTCTTAT CATATTAGAT TGTAGACTTG AACTTTACAT
 ATTGCTTAGT TTTCTTGTCT TTGAGGTAAT TTCCTTATCt ggcacgatat tggctcaccg
 caacctctgc ctctggggtt caaacgattc tcctgcctca acctcccaag taggtgggat
 tacaggcatg caccaccgtg cctggctaat tttttttatt tttagtagag acatggtctc
 tccatgttgg tcaggctggt cttaaactcc caacctgaag tgatccaccc gcctaggcct
 cccaaattgc tgggattaca ggcatgaccc accatgcctg gccTATTTTT ATTTTCATAA
 CTCTCCTCTG ACCTACTCAC AGGTCCTCTC TGACCTTCAA AATTGTCCCT GAACCAGACA
 AAGTACTGTA TGCAAGGGTC

  GeneView back to top
GeneView via analysis of contig annotation: KLHL23 kelch-like 23 (Drosophila)
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_005403->NM_144711
svfunction
CeleraNW_921585->NM_144711
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005403->NM_144711->NP_65331220781532forwardintron
CeleraNW_921585->NM_144711->NP_65331238380727forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7590594 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_001838861.1247248162462782plusGalt_assembly_8HuRefHuRefview4024
2NW_921585.138380727164190924plusGalt_assembly_1CeleraCeleraview4024
2NT_005403.1620781532170280360plusGref_assemblyreferencereferenceview4024

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005403
dbSNP Blast Analysis
GenBank HTGS Finished:
AC009967.8 NC_000002.10

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss11494515HapMap-CEUEuropean 120IG 0.817 0.150 0.033 0.100 0.892 0.108
HapMap-HCBAsian 90IG 0.600 0.356 0.044 1.000 0.778 0.222
HapMap-JPTAsian 88IG 0.432 0.523 0.045 0.150 0.693 0.307
HapMap-YRISub-Saharan African 120IG 0.483 0.467 0.050 0.251 0.717 0.283
ss23942512AFD_EUR_PANELEuropean 44IG 0.727 0.273 0.479 0.864 0.136
AFD_AFR_PANELAfrican American 42IG 0.619 0.333 0.048 1.000 0.786 0.214
AFD_CHN_PANELAsian 48IG 0.583 0.375 0.042 1.000 0.771 0.229
ss66395802HapMap-CEUEuropean 118GF 0.831 0.153 0.017 0.907 0.093
HapMap-HCBAsian 90GF 0.600 0.356 0.044 0.778 0.222
HapMap-JPTAsian 90GF 0.444 0.511 0.044 0.700 0.300
HapMap-YRISub-Saharan African 120GF 0.483 0.467 0.050 0.717 0.283

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.342+/-0.2333322602690

  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

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Revised: May 25, 2006 1:38 PM .