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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1011037          
refSNP ID: rs1011037
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_006198.2:c.10-1663C>T
NT_011512.10:g.26930608C>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 ss1473844 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1011037 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
ss1473844TSC-CSHL|TSC0090915byFreqfwd/TA/Gtcagaaaaataacaatcagtttcctttgacttcaacattgccataagaaattctcaggtc09/07/0004/07/0486Genomic95 %
ss3245127YUSUKE|IMS-JST055212byFreqrev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga09/05/0110/10/03100Genomicunknown
ss4017545PERLEGEN|P00226113byFreqrev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga09/26/0104/07/04100Genomicunknown
ss6049823SC_JCM|NT_011512.6_26842674rev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga01/10/0310/10/03111Genomicunknown
ss12516974WI_SSAHASNP|chr21.NT_011512.8_26929574rev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga07/04/0310/10/03116Genomicunknown
ss23649002PERLEGEN|afd0085759byFreqrev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga08/10/0409/13/04123Genomicunknown
ss44253857ABI|hCV9507147byFreqrev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga07/18/0511/03/06126Genomicunknown
ss66008416AFFY|SNP_A-1725867rev/BC/Tgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttt10/26/0610/26/06127Genomicunknown
ss66505216AFFY|SNP_A-4209140byFreqrev/BC/Tttatggcaatgttgaagtcaaaggaaactgat10/29/0608/14/07127Genomicunknown
ss69254338PERLEGEN|PGP00085759byFreqrev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga01/30/0708/14/07127Genomicunknown
ss76327950AFFY|AFFY_6_1M_SNP_A-4209140rev/BC/Tttatggcaatgttgaagtcaaaggaaactgat08/28/0708/30/07129Genomicunknown
ss91843155BCMHGSC_JDW|JWB-1498125rev/BC/Tgacctgagaatttcttatggcaatgttgaagtcaaaggaaactgattgttatttttctga02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1011037|allelePos=148|totalLen=3404|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GGCTCCTAGA AAAAAACAGC AGAGCACCGA ACAAGGAGAA AACCATGATA GGTGACTAAG
 GGATAAGGTA CCCTCAAAAT TCATATTTGG GTCCAGGTCT TTAGCCTAAA AACAATATCA
 GAAAAATAAC AATCAGTTTC CTTTGAC
 R
 TTCAACATTG CCATAAGAAA TTCTCAGGTC ATTTGTCAAC CCTTAATTAA TGGTAAATGT
 ATCATCTCGG AAAACCTTGC TCTCAGAATC TGAGAGGTAT AAATAAATAG AGTAAATGAT
 CCAGATTTAT ATTAACAAAG TGAACCATCC TCGTGTATGC TTATTGCATT ATGCAGACAA
 TAACCCAATA AAGAAGCAAA GTAAAGCTTC CCACTTATTA CGAATACCAT TCACCTTCCA
 TCTGAGTCAA TGTAAAATGA TTTAAATCAG GTAAACCATT TCTTAAATAT AGCAGATTTG
 CAAGTAAAAA TGCCTGCTTC TTTTTGTCTG TCCTTATGTT GATGCCTCCT CTTTTTAAAC
 ACAAGGCTCG TACGTTTGCT GCACTGGGTG GAAATCTGAC TACTACTGAG TTGGACCAAA
 TCCGAGATGG AACAGCCACC TCAGGTGATT AAACTCTGGC ATTCAAATCC AGTATCTTTC
 CCTGCATAAT TCATAGATGG CTCAAATAAA AGAAAATTTC ACGGAATAAA AGAACAGTGT
 TTTAGAGTAG AATAAAGTCA AATTAAATGG AAGGCAAGTG CAAAATAGGT GCATGCTCAA
 CCCCACAGTC TTTAAATGCC TTAAATATGG ATGCCTTTCA AATGTCATGA ATAACTTTTC
 CATAAAAGAT CACTTTTTAG AAACCAGAGG AAAACCAAAA TGAAATGTGC ACAGGGGAGA
 AAAGCAGTCA TTTTTTCGGG ATTTCTAAGA TGGGGTTTTT ATGTCAGGTT CTATTTAACG
 GAGACACAAT GAAGGTGATT TATGTCGTAG GTGAAGGTGT CTCACATCAA AAAATGATCC
 TGACAAAAAA AGAACTCGTT ATTGAAAGTA TTGAAAGTAT CTCATTTCAG AATTCTTTGG
 GACCTTTTGA CATTTTCAAT GGAGGTCTGA GGGCAGAGGG GGAATTCTCC AAGAGCTGCC
 CCATTCCCAG GGTCTGGTCT TTACAATACC AGGCAGTTGC AGTTTCACTG AATTTATACT
 GGAGAGAGTC TACACCAGGC TGGGTGTCGG GTAATCATGG TTCATGCTGC TGGGGCCAGG
 CTTCAAGGGC GCTCAAGCAC Catcaactca ttgagttctg acagcatccc tgatggggta
 gatgccctta gtgtcttcat cagcctcact ttaccaatta tatcctgagg cacagagagg
 aatttgctca agcccacgaa gtggggaaga ggcagaggca gaattcagcc cccaagaagc
 tggctctgga gcccttcctt ttagccactg tactTAAGCA TCTCTCAGTA CTGTGTGCAG
 CATACCTCCT GAGGGCCTCT ATCAGCGGGT GGGGAGTTAG GAGGCAGTAA GATTTGAGTT
 TGAAGGTAAA TGTGACTTCA TTAACACCAC AGGCTGGAGT TTTGAGAACA CTTGGCTTTT
 AGGAATAAGC AGAGGCAAAC AACAGCCAAG GGCTCAATTC CAGAAATGCT ATCAGATCTT
 TGTTAATGTT TAAATAACAT AAGCACCCAG AGCTAGGCTC TACTAAAATA AATAGCAgat
 ggatgtgtgg atggatagat gaatggatga gtagttgaat ggatgaatgg atgggtagat
 gaatggatag gtggatgaat gggtggatgg atggatggat ggatggatgg aagaatggat
 gggtggacct aaggatggat gagtgggtgg atggatggat gggtgggtgg atggatgaat
 gggtgtgtgg atgaatggat ggatggatgg atagatgaac agatgagtag ataaatgggt
 ggacggatgg gtagatgggt tgatggTCAA ATGAACAGAC AGACGGAGGT AGGTCATTCT
 CTAAGCAACC AACGAAAAGA TTCTTTTTCA TGACGTGACA GAAGTTAGCA TCTTCGGGAA
 GAGGCTGCCT TTTCTCTCCA CCCCACTCTC ATCCCCAAAT AGGAGAAGAT GTGATCTCTT
 ATCTCTGTTC TGAATGAGCT CCAACTACAA GTTCATCATC CTAAGAACAT ATGTTGCCGA
 CTGAACAGAA GTAGTCATAG TTCAAAAGTA TTATTTATTA TCATTGAACT AATAAATGAA
 ATCAAATATT CAAGAAACAG GGCACAATAA ATTGGCTTCA GAGCAAACCC TGATATGAGA
 TTCTGGAATC CTGAGCTCTT TCTTAGGAAT TTCAGAAATG ATTCAATGGT ATCATGAATA
 CCACCAATGT GTCATTCAGT TTAGATATCA ATATAGCTTA ATATGTTAGG TTATGCAGAA
 GGCAGTACAA GTTCTCCCTA AACAAATATG CATAGCCACA ATGACCAATT TAATGCAGGT
 GTAGAAAATA TGCTATTAGA ATTATCTAGA GAACTAAGGA CTAGAGTATT TGAGAGCTTC
 ATGAATATGC ATTCAGATAT CTGCGAATTT GTCAGCAGAT ATCTTCTTTG ATGTTTTCCA
 AGGGATCTAG AGAGTGAATC AGTTATGACT GCTAAGAAGA GCATGGGTTG ATACATGTGG
 GATTTTGCTA TCTTTTCTTC TGGGGAAGCA GGTAGTAGAG GGGTAGTAGA GGAAAAAGTC
 ACATCAACTT CAACCACAGC AAAACCAGAT CCATTAGATT GTCTAATAAT TCCACTCCCA
 GGAGAATGCC ACCATGAGTC TTGCAGTCTA TATCACAATA CTCAGCTCAG ATGTTCTCAT
 TCTTCTCCTG ATCATCTCCA GCCCGACACC CACCCTAATG ACTTCTCTTC CATAAAATGC
 TCCTGTTTGG GACCCTCCAC AACACCTTGT CCCCATGCAG ACACGGCATC TTCCTGGATG
 CTCACCAAAG AGTCTAGAAG AAGGACAGCC CCTTCCTCCT TCAACCGCCT GAAATCAGCG
 TCCCTGGTGC TCAAGCCAGC TCTGTGTCTA TCTACATCAT CAGAGACACT GGCCCTCCCT
 CTTTAAACAT GTTAGAGCAA TGTCCCTATT TTTATCTCCA GAGACCTCCA CAAAAGACAG
 GTGGCCCTCT GTGAGACAGT GTATTCCACT TGGATTGACC TTCACAATCA CAAATAGTAA
 CACCACTGGG CTCTTTCAAA CAAAAGACAT ATTTCCCTCA CAATGACTTC CTTCAACATT
 GTCCTTATTT CACCATTAGA ACATGCTACA TACCCATCTA AGGTTCAACA CCAGAATTCA
 CAATCACAGC CTGCATCCTT GGCCCTGTGC CAGGCAGGTG GTGCATGAGC TGGGACTCTC
 TGGAGGGGCC ACAGGA

  GeneView back to top
GeneView via analysis of contig annotation: PCP4 Purkinje cell protein 4
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_011512->NM_006198
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011512->NM_006198->NP_00618926930608forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1011037 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
21NW_927384.12595133726466214minusCalt_assembly_1CeleraCeleraview147
21NW_001838709.245352126738094plusGalt_assembly_8HuRefHuRefview147
21NT_011512.102693060840190608minusCref_assemblyreferencereferenceview147

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011512.6 AL163281.2
dbSNP Blast Analysis
GenBank HTGS Finished:
AF064857.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
N
ss1473844TSC_42_AA 72AF 0.170 0.830
TSC_42_C 82AF 0.120 0.880
TSC_42_A 83AF 0.198 0.802
AfAmAfrican American 12IG 0.333 0.667 0.655 0.167 0.833
CaucasianEuropean 22IG 0.091 0.909 1.000 0.045 0.955
AsianAsian 12IG 0.167 0.167 0.667 0.200 0.250 0.750
CEPHEuropean 10IG 1.000 1.000
PDpanelGlobal 48IG 0.250 0.750 0.527 0.125 0.875
CEPH 184AF 0.040 0.960
HapMap-CEUEuropean 120IG 0.167 0.833 0.527 0.083 0.917
HapMap-HCBAsian 90IG 0.067 0.244 0.689 0.200 0.189 0.811
HapMap-JPTAsian 90IG 0.089 0.333 0.578 0.317 0.256 0.744
HapMap-YRISub-Saharan African 120IG 0.033 0.300 0.667 1.000 0.183 0.817
CHMJAsian 74IG 0.176 0.811 0.014
ss23649002AFD_EUR_PANELEuropean 48IG 0.167 0.833 0.752 0.083 0.917
AFD_AFR_PANELAfrican American 46IG 0.043 0.348 0.609 1.000 0.217 0.783
AFD_CHN_PANELAsian 46IG 0.217 0.783 0.584 0.109 0.891
ss3245127JBIC-allele 1312AF 0.222 0.778
ss4017545NCBI|NIHPDR 16AF 0.125 0.875
ss44253857AoD_African_American 90AF 0.170 0.830
AoD_Caucasian 92AF 0.100 0.900
AoD_Chinese 90AF 0.080 0.920
AoD_Japanese 90AF 0.220 0.780
ss66505216HapMap-CEUEuropean 118GF 0.169 0.831 0.085 0.915
HapMap-HCBAsian 90GF 0.067 0.267 0.667 0.200 0.800
HapMap-JPTAsian 90GF 0.044 0.400 0.556 0.244 0.756
HapMap-YRISub-Saharan African 120GF 0.033 0.300 0.667 0.183 0.817
ss69254338HapMap-CEUEuropean 120GF 0.167 0.833 0.083 0.917
HapMap-HCBAsian 90GF 0.067 0.244 0.689 0.189 0.811
HapMap-JPTAsian 90GF 0.089 0.333 0.578 0.256 0.744
HapMap-YRISub-Saharan African 120GF 0.033 0.300 0.667 0.183 0.817
Concordant GenotypeTotal SampleA/AA/GG/G
ss1473844318979230
ss2364900271
ss66505216265
ss69254338266
RefSNP Genotype SummaryTotal IndividualA/AA/GG/G
rs1011037378979230
Discordant Genotypes:
Indiviudal
SampleID
SubSNP(ss)GenotypePopulation
Handle
Submitter
Population
Submitter
SampleID
SampleID
Alias
Submission
Batch
NCBI
ProbeID
5192ss1473844G/GCSHL-HAPMAPHapMap-HCBNA18637CH18637r23_ch21_HCB_affymetrix:genotype_protocol_1115452
5192ss66505216C/TCSHL-HAPMAPHapMap-HCBNA18637CH18637chr21-HapMap-HCB
5192ss69254338C/CCSHL-HAPMAPHapMap-HCBNA18637CH18637chr21-HapMap-HCB
5209ss1473844A/ACSHL-HAPMAPHapMap-JPTNA18960JA18960r23_ch21_JPT_affymetrix:genotype_protocol_1115452
5209ss66505216C/TCSHL-HAPMAPHapMap-JPTNA18960JA18960chr21-HapMap-JPT
5209ss69254338T/TCSHL-HAPMAPHapMap-JPTNA18960JA18960chr21-HapMap-JPT
5219ss1473844A/ACSHL-HAPMAPHapMap-JPTNA18970JA18970r23_ch21_JPT_affymetrix:genotype_protocol_1115452
5219ss66505216C/TCSHL-HAPMAPHapMap-JPTNA18970JA18970chr21-HapMap-JPT
5219ss69254338T/TCSHL-HAPMAPHapMap-JPTNA18970JA18970chr21-HapMap-JPT
5231ss1473844G/GCSHL-HAPMAPHapMap-JPTNA18998JA18998r23_ch21_JPT_affymetrix:genotype_protocol_1115452
5231ss66505216C/TCSHL-HAPMAPHapMap-JPTNA18998JA18998chr21-HapMap-JPT
5231ss69254338C/CCSHL-HAPMAPHapMap-JPTNA18998JA18998chr21-HapMap-JPT
Genotype data submitted for393 samples from378 individualsIndividual with multiple genotypes submission:276

  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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .