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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs17125266          
refSNP ID: rs17125266
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_012291.4:c.2079G>A
NP_036423.4:p.M693I
NT_029419.11:g.15814310G>A
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 ss48412451 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17125266 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
ss23959777PERLEGEN|afd2041291byFreqfwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc08/10/0409/13/04123Genomicunknown
ss48412451APPLERA_GI|hCV25931032byFreqfwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc09/28/0511/03/06126Genomicunknown
ss67540330ILLUMINA|HumanHap650Yv1.0_rs17125266fwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc11/14/0611/14/06127Genomicunknown
ss69109461PERLEGEN|PGP02041291fwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc01/30/0701/30/07127Genomicunknown
ss71215762ILLUMINA|HumanHap650Yv3.0_rs17125266fwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc04/23/0704/23/07127Genomicunknown
ss74817375AFFY|SNP_M-315260fwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc08/09/0708/09/07128Genomicunknown
ss75330505ILLUMINA|ILMN_Human_1M_rs17125266fwd/TA/Ggctttacatctgtactctggaagccaaaatcaggaagtgagtgtggctgctgtggggctc08/28/0708/29/07129Genomicunknown
ss76663239AFFY|AFFY_6_1M_SNP_A-8524432rev/BC/Tccacactcacttcctgattttggcttccagag08/28/0708/30/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17125266|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GAGAACCAGT TTCCCTCTCC ACAGCCCTGA GCTCTCCCTT CATCTTGTGG CCATGGGAGC
 ACATGCAAAG GGCGAGGCCA GCTGTTCTGC AGCTAGCCCT TCCCAGGGCG CTATGGCAGA
 TACTCATAGT AGGCCCAGCT TAAGCACATC TTCTCCCTGC AGCTCTGCTC TGGATGCTAT
 CCGGGAAGCC CTGCAGCTTC TGGACTCTGT GAGGCCTGAG GCCCAGGCCA GAGATCAGCT
 TCTGGACGAT AAAGCACAGG CCTTGCTGTG GCTTTACATC TGTACTCTGG AAGCCAAAAT
 R
 CAGGAAGTGA GTGTGGCTGC TGTGGGGCTC ACCAGAACTG GGTGTAGGAA TTACTGTCCC
 TGGGCCCCCA ACAAGTTGGT ATCAGCCCTT TTTTTTGTTC GTTATTTTTA GAGATGGGGT
 CTCTCTGTTG CCCAGGCTGG TCTTGAACTC CTGGGCTCCA ACAATCCTCC CACCTCAGCC
 TGCCGAGTAG CCAGGACGAT AGGCCCACAC CACTGTGCCC TGTTTTATAC CCCGATCTTC
 CCATCCAGGG TATCGAGCGG GATCGGAGAG CCCAGGCCCC TGGTAACTTG GAGGAATTTG

  GeneView back to top
GeneView via analysis of contig annotation: ESPL1 extra spindle pole bodies homolog 1 (S. cerevisiae)
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_029419->NM_012291
svfunction
HuRefNW_001838059->NM_012291
svfunction
CeleraNW_925395->NM_012291
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_029419->NM_012291->NP_03642315814311forward2170missenseAIle [I]3693
contig referenceGMet [M]3693
HuRefNW_001838059->NM_012291->NP_036423939010forward2170missenseAIle [I]3693
contig referenceGMet [M]3693
CeleraNW_925395->NM_012291->NP_036423944127forward2170missenseAIle [I]3693
contig referenceGMet [M]3693

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs17125266 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
12NW_001838059.193901050712850plusGalt_assembly_8HuRefHuRefview300
12NT_029419.111581431151957272plusGref_assemblyreferencereferenceview300
12NW_925395.194412753320298plusGalt_assembly_1CeleraCeleraview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000012.9
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC073611.29 NC_000012.10 AC021103.7
UniGene Cluster ID
153479

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss23959777AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 46IG 0.174 0.826 0.655 0.087 0.913
AFD_CHN_PANELAsian 48IG 0.333 0.667 0.343 0.167 0.833
ss48412451HapMap-CEUEuropean 118IG 0.017 0.983 1.000 0.008 0.992
HapMap-HCBAsian 90IG 0.333 0.667 0.200 0.167 0.833
HapMap-JPTAsian 90IG 0.022 0.378 0.600 0.371 0.211 0.789
HapMap-YRISub-Saharan African 120IG 0.017 0.167 0.817 0.584 0.100 0.900
AGI_ASP populationAfrican American 78IG 0.103 0.897 0.752 0.051 0.949
ss69109461HapMap-CEUEuropean 120GF 1.000 1.000
HapMap-HCBAsian 90GF 1.000 1.000
HapMap-JPTAsian 90GF 0.022 0.978 0.011 0.989
HapMap-YRISub-Saharan African 120GF 1.000 1.000
Concordant GenotypeTotal SampleA/AA/GG/G
ss23959777711259
ss484124512574252
ss69109461218218
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs1712526637116303
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
254ss48412451A/GCSHL-HAPMAPHapMap-CEUNA10856CEPH1350.01r23_ch12_CEU_perlegen:genotyping_1.0.04728375
254ss69109461G/GCSHL-HAPMAPHapMap-CEUNA10856CEPH1350.01chr12-HapMap-CEU
263ss48412451A/GCSHL-HAPMAPHapMap-CEUNA11830CEPH1350.11r23_ch12_CEU_perlegen:genotyping_1.0.04728375
263ss69109461G/GCSHL-HAPMAPHapMap-CEUNA11830CEPH1350.11chr12-HapMap-CEU
5138ss48412451A/GCSHL-HAPMAPHapMap-YRINA19130YOR101.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5138ss69109461G/GCSHL-HAPMAPHapMap-YRINA19130YOR101.03chr12-HapMap-YRI
5139ss48412451A/ACSHL-HAPMAPHapMap-YRINA19100YOR105.01r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5139ss69109461A/GCSHL-HAPMAPHapMap-YRINA19100YOR105.01chr12-HapMap-YRI
5140ss48412451A/ACSHL-HAPMAPHapMap-YRINA19099YOR105.02r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5140ss69109461G/GCSHL-HAPMAPHapMap-YRINA19099YOR105.02chr12-HapMap-YRI
5141ss48412451A/GCSHL-HAPMAPHapMap-YRINA19098YOR105.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5141ss69109461G/GCSHL-HAPMAPHapMap-YRINA19098YOR105.03chr12-HapMap-YRI
5142ss48412451A/GCSHL-HAPMAPHapMap-YRINA19194YOR112.01r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5142ss69109461G/GCSHL-HAPMAPHapMap-YRINA19194YOR112.01chr12-HapMap-YRI
5144ss48412451A/GCSHL-HAPMAPHapMap-YRINA19192YOR112.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5144ss69109461G/GCSHL-HAPMAPHapMap-YRINA19192YOR112.03chr12-HapMap-YRI
5151ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18558CH18558r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5151ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18558CH18558chr12-HapMap-HCB
5157ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18540CH18540r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5157ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18540CH18540chr12-HapMap-HCB
5163ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18609CH18609r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5163ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18609CH18609chr12-HapMap-HCB
5165ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18608CH18608r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5165ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18608CH18608chr12-HapMap-HCB
5168ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18555CH18555r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5168ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18555CH18555chr12-HapMap-HCB
5169ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18564CH18564r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5169ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18564CH18564chr12-HapMap-HCB
5171ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18563CH18563r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5171ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18563CH18563chr12-HapMap-HCB
5177ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18594CH18594r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5177ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18594CH18594chr12-HapMap-HCB
5178ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18622CH18622r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5178ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18622CH18622chr12-HapMap-HCB
5179ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18573CH18573r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5179ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18573CH18573chr12-HapMap-HCB
5182ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18577CH18577r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5182ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18577CH18577chr12-HapMap-HCB
5183ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18624CH18624r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5183ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18624CH18624chr12-HapMap-HCB
5184ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18579CH18579r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5184ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18579CH18579chr12-HapMap-HCB
5189ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18592CH18592r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5189ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18592CH18592chr12-HapMap-HCB
5192ss48412451A/GCSHL-HAPMAPHapMap-HCBNA18637CH18637r23_ch12_HCB_perlegen:genotyping_1.0.04728375
5192ss69109461G/GCSHL-HAPMAPHapMap-HCBNA18637CH18637chr12-HapMap-HCB
5195ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18951JA18951r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5195ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18951JA18951chr12-HapMap-JPT
5197ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18947JA18947r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5197ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18947JA18947chr12-HapMap-JPT
5201ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18948JA18948r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5201ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18948JA18948chr12-HapMap-JPT
5203ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18956JA18956r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5203ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18956JA18956chr12-HapMap-JPT
5204ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18964JA18964r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5204ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18964JA18964chr12-HapMap-JPT
5206ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18968JA18968r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5206ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18968JA18968chr12-HapMap-JPT
5207ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18959JA18959r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5207ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18959JA18959chr12-HapMap-JPT
5212ss48412451A/ACSHL-HAPMAPHapMap-JPTNA18965JA18965r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5212ss69109461A/GCSHL-HAPMAPHapMap-JPTNA18965JA18965chr12-HapMap-JPT
5213ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18973JA18973r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5213ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18973JA18973chr12-HapMap-JPT
5215ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18975JA18975r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5215ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18975JA18975chr12-HapMap-JPT
5217ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18976JA18976r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5217ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18976JA18976chr12-HapMap-JPT
5221ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18995JA18995r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5221ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18995JA18995chr12-HapMap-JPT
5222ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18981JA18981r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5222ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18981JA18981chr12-HapMap-JPT
5223ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18971JA18971r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5223ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18971JA18971chr12-HapMap-JPT
5228ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18994JA18994r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5228ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18994JA18994chr12-HapMap-JPT
5230ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18997JA18997r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5230ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18997JA18997chr12-HapMap-JPT
5231ss48412451A/GCSHL-HAPMAPHapMap-JPTNA18998JA18998r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5231ss69109461G/GCSHL-HAPMAPHapMap-JPTNA18998JA18998chr12-HapMap-JPT
5232ss48412451A/GCSHL-HAPMAPHapMap-JPTNA19000JA19000r23_ch12_JPT_perlegen:genotyping_1.0.04728375
5232ss69109461G/GCSHL-HAPMAPHapMap-JPTNA19000JA19000chr12-HapMap-JPT
5250ss48412451A/GCSHL-HAPMAPHapMap-YRINA18521YOR016.01r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5250ss69109461G/GCSHL-HAPMAPHapMap-YRINA18521YOR016.01chr12-HapMap-YRI
5252ss48412451A/GCSHL-HAPMAPHapMap-YRINA18522YOR016.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5252ss69109461G/GCSHL-HAPMAPHapMap-YRINA18522YOR016.03chr12-HapMap-YRI
5268ss48412451A/GCSHL-HAPMAPHapMap-YRINA19094YOR040.01r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5268ss69109461G/GCSHL-HAPMAPHapMap-YRINA19094YOR040.01chr12-HapMap-YRI
5269ss48412451A/GCSHL-HAPMAPHapMap-YRINA19093YOR040.02r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5269ss69109461G/GCSHL-HAPMAPHapMap-YRINA19093YOR040.02chr12-HapMap-YRI
5270ss48412451A/GCSHL-HAPMAPHapMap-YRINA19092YOR040.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5270ss69109461G/GCSHL-HAPMAPHapMap-YRINA19092YOR040.03chr12-HapMap-YRI
5271ss48412451A/GCSHL-HAPMAPHapMap-YRINA19103YOR042.01r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5271ss69109461G/GCSHL-HAPMAPHapMap-YRINA19103YOR042.01chr12-HapMap-YRI
5273ss48412451A/GCSHL-HAPMAPHapMap-YRINA19101YOR042.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5273ss69109461G/GCSHL-HAPMAPHapMap-YRINA19101YOR042.03chr12-HapMap-YRI
5282ss48412451A/GCSHL-HAPMAPHapMap-YRINA19171YOR047.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5282ss69109461G/GCSHL-HAPMAPHapMap-YRINA19171YOR047.03chr12-HapMap-YRI
5289ss48412451A/GCSHL-HAPMAPHapMap-YRINA19208YOR051.01r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5289ss69109461G/GCSHL-HAPMAPHapMap-YRINA19208YOR051.01chr12-HapMap-YRI
5291ss48412451A/GCSHL-HAPMAPHapMap-YRINA19207YOR051.03r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5291ss69109461G/GCSHL-HAPMAPHapMap-YRINA19207YOR051.03chr12-HapMap-YRI
5302ss48412451A/GCSHL-HAPMAPHapMap-YRINA19140YOR071.02r23_ch12_YRI_perlegen:genotyping_1.0.04728375
5302ss69109461G/GCSHL-HAPMAPHapMap-YRINA19140YOR071.02chr12-HapMap-YRI
Genotype data submitted for380 samples from371 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
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .