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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs26938          
refSNP ID: rs26938
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:76/129
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_198859.2:c.*1605T>G
NT_022517.17:g.64023162A>C
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 ss44373834 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs26938 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
ss39506KWOK|OVLP-78463fwd/BG/Tggattgtggcagttgaaataatccatcggagacccacctgtagtgagatgtactgtcgat04/28/0010/10/0376Genomic99 %
ss40040KWOK|OVLP-87005fwd/BG/Tggattgtggcagttgaaataatccatcggagacccacctgtagtgagatgtactgtcgat04/28/0010/10/0376Genomic99 %
ss415378KWOK|OVLP-000621-283625rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc06/30/0010/10/0379Genomic99 %
ss1136632KWOK|OVLP-000804-390521rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc09/02/0010/10/0386Genomic99 %
ss1138651KWOK|OVLP-000804-398476rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc09/02/0010/10/0386Genomic99 %
ss1141306KWOK|OVLP-000804-413224rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc09/02/0010/10/0386Genomic99 %
ss1141914KWOK|OVLP-000804-416144fwd/BG/Tggattgtggcagttgaaataatccatcggagacccacctgtagtgagatgtactgtcgat09/02/0010/10/0386Genomic99 %
ss1785156KWOK|OVLP-000925-431373rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc10/05/0010/10/0387Genomic99 %
ss1787134KWOK|OVLP-000925-453277rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc10/05/0010/10/0387Genomic99 %
ss1787635KWOK|OVLP-000925-462531rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc10/05/0010/10/0387Genomic99 %
ss1787794KWOK|OVLP-000925-467064fwd/BG/Tggattgtggcagttgaaataatccatcggagacccacctgtagtgagatgtactgtcgat10/05/0010/10/0387Genomic99 %
ss3669826SC_JCM|AC021023.8_117717fwd/BG/Tggattgtggcagttgaaataatccatcggagacccacctgtagtgagatgtactgtcgat09/24/0110/10/03100Genomicunknown
ss6457349WI_SSAHASNP|NT_005999.13_3087216rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc02/12/0310/10/03111Genomicunknown
ss10052885BCM_SSAHASNP|chr3.NT_005999.15_13020983rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc06/27/0310/10/03116Genomicunknown
ss11566988WI_SSAHASNP|chr3.NT_005999.15_13020983rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc07/03/0310/10/03116Genomicunknown
ss16951919CSHL-HAPMAP|CSHL-HuAA-200402.chr3.NT_022517.16_64005460rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc02/17/0403/04/04120Genomicunknown
ss19519456CSHL-HAPMAP|CSHL-HuDD-200402.chr3.NT_022517.16_64005460rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc02/20/0403/04/04120Genomicunknown
ss21968864SSAHASNP|WGSA-200403-chr3.chr3.NT_022517.16_64005460rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc03/20/0403/20/04121Genomicunknown
ss23217605PERLEGEN|afd2372572byFreqrev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc08/10/0409/13/04123Genomicunknown
ss44373834ABI|hCV618581byFreqrev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc07/18/0511/03/06126Genomicunknown
ss66193925AFFY|SNP_A-2261922byFreqfwd/BG/Tgaaataatccatcggagacccacctgtagtga10/27/0608/14/07127Genomicunknown
ss75167748ILLUMINA|ILMN_Human_1M_rs26938fwd/BG/Tggattgtggcagttgaaataatccatcggagacccacctgtagtgagatgtactgtcgat08/28/0708/29/07129Genomicunknown
ss76273495AFFY|AFFY_6_1M_SNP_A-2261922fwd/BG/Tgaaataatccatcggagacccacctgtagtga08/28/0708/30/07129Genomicunknown
ss81303738HGSV|Cor18507_SNV_20070510.chr3_64058162rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc11/26/0711/29/07130Genomicunknown
ss82431141HGSV|Cor18956_SNV_20070510.chr3_64058162rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc11/30/0712/02/07130Genomicunknown
ss82627765HGSV|Cor19240_SNV_20070510.chr3_64058162rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc11/30/0712/03/07130Genomicunknown
ss92116182BCMHGSC_JDW|JWB-1603315rev/TA/Catcgacagtacatctcactacaggtgggtctccgatggattatttcaactgccacaatcc02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs26938|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 ACCAGCTTAG TAACCAGAGT ATCTGGATTA CCCAGGAAGG TTGAGCTGCT GAGATTTCAG
 TGGTGCAATG TCTTTAAAAA AACAGGCTTT GTTGGGAGGG TATTTCCATT TTGAACTTTG
 AGGACTGTTG GTCAGAAAAT GGGCTCAAAA GTGAGTTTGC TTAATGAAGA CATTTAACGG
 TTGTGCTGTT TATAGTAAAA TAAAACTCCC TACCTTGCTT CAGTTAAAAA TGAAGCACTT
 GGTTTCTTCC ATCCTCCTCC TCCCCTTAAT GGATTGTGGC AGTTGAAATA ATCCATCGGA
 K
 GACCCACCTG TAGTGAGATG TACTGTCGAT GTAGTGCCCG GTGTATCTCA GTGGCCATCT
 GCCATGGTGA GGTGAGCGTG ATCTCTTTTC AGTATAGTAG TTAACATTTT CTAGTATTTT
 TTATGGAGAG AATGTCAAAA GTGGCATTTC AGACCCCGTC CCAGATGGGT CTGAGGAAAG
 GAAGGCTGTA AAGGACATGG TAATGGCACT CCATTCGGGA TGTATTAAAA TAATTTGCTT
 TTCAGGTATT AATATGACAT TTGTCATTGT CACTGATTTT TTTAAAAAAG CAATGCACAT

  GeneView back to top
GeneView via analysis of contig annotation: PRICKLE2 prickle homolog 2 (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_022517->NM_198859
function
HuRefNW_001838877->NM_198859
function
CeleraNW_921651->NM_198859
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_022517->NM_198859->64023162reverse47263' UTR
HuRefNW_001838877->NM_198859->2087416forward47263' UTR
CeleraNW_921651->NM_198859->64099891reverse47263' UTR

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs26938 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
3NT_022517.176402316264058162minusAref_assemblyreferencereferenceview300
3NW_921651.16409989164099891minusCalt_assembly_1CeleraCeleraview300
3NW_001838877.2208741664180246plusGalt_assembly_8HuRefHuRefview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517 AC007944 AC011312 AC018656 AC018656.10 AC021023.7 AC021023.8 AC021874 AC021874.17 AC021874.18
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank mRNA:
NM_198859.2 BX537915.1
UniGene Cluster ID
148105

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss23217605AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 46IG 0.783 0.130 0.087 0.020 0.848 0.152
AFD_CHN_PANELAsian 48IG 0.958 0.042 1.000 0.979 0.021
ss44373834HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 0.933 0.067 1.000 0.967 0.033
HapMap-JPTAsian 90IG 0.978 0.022 1.000 0.989 0.011
HapMap-YRISub-Saharan African 120IG 0.617 0.283 0.100 0.758 0.242
ss66193925HapMap-CEUEuropean 118GF 1.000 1.000
HapMap-HCBAsian 90GF 0.933 0.067 0.967 0.033
HapMap-JPTAsian 90GF 0.978 0.022 0.989 0.011
HapMap-YRISub-Saharan African 120GF 0.617 0.283 0.100 0.758 0.242

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.140+/-0.2243322602690

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqbySubmitterwithHapMapFreq
Validated by: PERLEGEN
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .