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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs545206          
refSNP ID: rs545206
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/129
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_198465.2:c.253-145C>A
NT_011651.16:g.28428450C>A
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 ss2049739 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs545206 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
ss716035SC_JCM|AC026977.2_182593byFreqfwd/BG/Tagcaatttataataaaatctcaactaaaatgtcagtgaatgaagacctctggttaacctg07/27/0004/07/0483Genomicunknown
ss2049739KWOK|OVLP-000925-468047byFreqfwd/BG/Tagcaatttataataaaatctcaactaaaatgtcagtgaatgaagacctctggttaacctg10/06/0005/16/0487Genomic97 %
ss8249746SC_SNP|NT_011651.11_1854201rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct04/17/0310/10/03114Genomicunknown
ss18051211CSHL-HAPMAP|CSHL-HuCC-200402.chrX.NT_011651.14_23142264rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct02/19/0403/04/04120Genomicunknown
ss19824262CSHL-HAPMAP|CSHL-HuDD-200402.chrX.NT_011651.14_23142264rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct02/20/0403/04/04120Genomicunknown
ss20398013CSHL-HAPMAP|CSHL-HuFF-200402.chrX.NT_011651.14_23142264rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct02/21/0403/04/04120Genomicunknown
ss21059347SSAHASNP|WGSA-200403-chrX.chrX.NT_011651.14_23142264rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct03/19/0403/19/04121Genomicunknown
ss23834601PERLEGEN|afd3848545byFreqrev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct08/10/0409/13/04123Genomicunknown
ss43585365ABI|hCV2531124byFreqrev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct07/18/0511/03/06126Genomicunknown
ss61706218SI_EXO|NT_011651.15_28428450rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct07/11/0608/17/06127Genomicunknown
ss75065803ILLUMINA|ILMN_Human_1M_rs545206fwd/BG/Tagcaatttataataaaatctcaactaaaatgtcagtgaatgaagacctctggttaacctg08/28/0708/29/07129Genomicunknown
ss76461246AFFY|AFFY_6_1M_SNP_A-8322244rev/TA/Cgtcttcattcactgacattttagttgagattt08/28/0708/30/07129Genomicunknown
ss84254697HGSV|Cor18555_SNV_20070510.chrX_104938287rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct11/27/0712/06/07130Genomicunknown
ss86125550HGSV|Cor18517_SNV_20070510.chrX_104938287rev/TA/Ccaggttaaccagaggtcttcattcactgacattttagttgagattttattataaattgct12/06/0712/11/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs545206|allelePos=201|totalLen=1713|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 TGGAAAGAGT ACTTCCTCAG AAGGTTGAGT TCAGTCCTGA GATCCTCTTC CTCATCCTAT
 GGAATAAGAA TAGACAGCAA AGCTCCTAAA CTGTGCAATC AATGACTATA AGTCCCTAAA
 GTACAGTATA TCAATGAAGG AGAATCCTAT GGCAACTAAT TATATCCAAC AGCAATTTAT
 AATAAAATCT CAACTAAAAT
 K
 GTCAGTGAAT GAAGACCTCT GGTTAACCTG GAGTCTGGGG GAATAAAAAG GGTAAACTGA
 AGATCGTTTA GTTcagtggt tcttaaggta tggtccctgg accagcggca ctggcCACTG
 TATAAAATTT TCACTGAGTG GAGTCATTAT ATTGTTGTTT CTTTTGTAac agttttattg
 agatataatt cacatactat aaaattcacc catttaaagt gcaaaatgca atggttttta
 gtatatttat acagttgtgc aatcatcacc acaatcaatt ttagaacatt tttatcactc
 caaaaggaaa ccccatatcc tttagttatc atcccccaat tctgccacac acacacccca
 actctaagca atcactaatc cactttatgt ctcagtagat ttatcagttc tggacatttt
 atataaatga aatcatataa catggtcttt tgtgactagt tcttttcaaa gttcatccat
 atgtagcatg taacaatgtt tcattgcttt tggtttacca ttcatcaatt gagggatgtt
 tgggctattt ctaccattta gctattatga ataatgcttc tatgaacagt catgtcaagt
 aactctatgt ttaatgtttt gatgaaatga cagactgtct cccacattgg ctttaccatt
 ttgcattacc aagagcaatg tatgcagggg ttccactttc tctacactat caccaacact
 tgctattttc tgttttatta ttataaccat tctagtgggt gtgaagtggt gtctcattgt
 ggttttaatt tgcaattccc tgatgactaa tgatgttgag catcttttcc tgtgcctatt
 gccgatatgt tcttcaagaa atgtctaata caaaattctt tgtcctttta aaaactgggt
 tgtcatttta ttactgaatt gtaagagctc ttcatatatt ctagatacaa gtgccttatc
 agatagacaa cttgcaaata atttctctca tactgtggat tgttttctca ctgtcttgat
 agtgaccttt gaagcacaaa agtttttatt ttaatgaagc acaatttata aatttgttgt
 tttgttgctt gtacttttgg tgccatatat aagcatccac tgtcaaatca taggtcacaa
 agctttatcc ttgttttctt ctaagcattt tatagtttta gctcttatac ttaggtgtct
 gatccatttt gagttaactt ttatataaag taaaagtcca acctcattat tttgcatgtg
 gatGGACAGT ACCATACTAT CTTGATTATT TGGTAATCCT TTACATTTTA AAGGTATTGG
 TTTGTTCTGT GCTGATCTTT TAAAAatttt tattattttt tcacatttta tttatttatt
 tttatttttt tcgataattt atttttattA ATCACAACAA TGGCACATGC ATACCAAATA
 TAGAGAAATA TACTAATAAA ATATGTAAGG GGTCTACTCT CACTGAACAT TTTCCCCAAG
 CAATATTAAC TG

  GeneView back to top
GeneView via analysis of contig annotation: NRK Nik related kinase
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_011651->NM_198465
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011651->NM_198465->NP_94086728428450forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs545206 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
XNW_001842390.234614794759029plusGalt_assembly_8HuRefHuRefview200
XNT_011651.1628428450105018798minusCref_assemblyreferencereferenceview200
XNW_927717.11891138105606620minusAalt_assembly_1CeleraCeleraview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011651.15 Z69734 Z69734.1
dbSNP Blast Analysis
GenBank HTGS Finished:
Z69734.2

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss2049739HapMap-CEUEuropean 120IG 0.767 0.083 0.150 0.100 0.808 0.192
HapMap-HCBAsian 90IG 0.644 0.178 0.178 0.655 0.733 0.267
HapMap-JPTAsian 82IG 0.976 0.024 1.000 0.976 0.024
HapMap-YRISub-Saharan African 120IG 0.183 0.250 0.567 0.403 0.308 0.692
ss23834601AFD_EUR_PANELEuropean 44IG 0.773 0.136 0.091 0.025 0.841 0.159
AFD_AFR_PANELAfrican American 46IG 0.304 0.261 0.435 0.025 0.435 0.565
AFD_CHN_PANELAsian 48IG 0.708 0.167 0.125 0.020 0.792 0.208
ss43585365AoD_African_American 90AF 0.380 0.620
AoD_Caucasian 92AF 0.830 0.170
AoD_Chinese 90AF 0.630 0.370
AoD_Japanese 90AF 0.920 0.080
ss716035TSC_42_AA 84AF 0.550 0.450
TSC_42_C 84AF 0.800 0.200
TSC_42_A 84AF 0.900 0.100

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.434+/-0.16933226090

  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: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .