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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs288071          
refSNP ID: rs288071
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
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_001039538.1:c.-172+36051A>G
NT_005403.16:g.60617833A>G
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 ss1956925 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs288071 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
ss373024KWOK|OVLP-000621-172386rev/BC/Tgcgtggtatctaaagaaacctgacacaatctaaaatacagaaacagatacaaaatagttt06/30/0010/10/0379Genomic99 %
ss1231613KWOK|OVLP-000804-349996fwd/TA/Gaaactattttgtatctgtttctgtattttagattgtgtcaggtttctttagataccacgc09/02/0010/10/0386Genomic97 %
ss1956925KWOK|OVLP-000925-434620byFreqfwd/TA/Gaaactattttgtatctgtttctgtattttagattgtgtcaggtttctttagataccacgc10/06/0004/07/0487Genomic97 %
ss3661211SC_JCM|AC019106.3_164990fwd/TA/Gaaactattttgtatctgtttctgtattttagattgtgtcaggtttctttagataccacgc09/24/0110/10/03100Genomicunknown
ss23236732PERLEGEN|afd0788219byFreqfwd/TA/Gaaactattttgtatctgtttctgtattttagattgtgtcaggtttctttagataccacgc08/10/0409/13/04123Genomicunknown
ss75182139ILLUMINA|ILMN_Human_1M_rs288071fwd/TA/Gaaactattttgtatctgtttctgtattttagattgtgtcaggtttctttagataccacgc08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs288071|allelePos=2949|totalLen=3149|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GTCCTAAATA CTCCAAAGTA TCTAATGCAC TTAAGAAATG CATTGAGGAT TTTCAAAATA
 TATTTGCTCT TGAGATCCTC AATCTACTGT ATGCATTATA cagacgtacc ctggagttac
 tgcaggttta gttctagctg ccacgataaa gcaagtcaca tgaattttgt gttttccagt
 gcatacaata gttacgttta cactatactg tggtctatta agtgtgcaat agtatgtcta
 aaaagtacat accttaatga aaaaatactt tattgctaaa aatactaatg attttttcgt
 tttttgagac ggagtcttat tctgtcaccc aggctggagt gcgatggcac gatctcggct
 cactgcaact tccgcctccc gggttcaagc aattctcctg cctcagcctc ccaagtagct
 gggattacag gcacctgcca tcatgcctga ctaatttttg tatttttgta gagatggggt
 ttcaccatgt tggacaggct ggtctcgaac ttctaacttc aagtgatcca tctgcctcgg
 cctcccgaag tgctgggatt acagtcatga gccacccgcg cctggcccta atgatcattt
 aagctttctg caagtcatag tcttgttgat gaagggtctt gcttcaatgt tgatgactgc
 tgaccgatca gggtggtggt ttctgaaggt taggttgact gtggcagttt cttaaaataa
 gataacaatg aagtttacca cattggttgt gtcttccctt catgaaagat atctctgtaa
 catgcaatgt tgtttgatag catttcaacc acagaacgtc aaatttggag tcaatccact
 caaaccttgc ctctggctca tcaacttagt ttatgtaata ttctaaatcc tttgttgtta
 tcttgacaat gttcatagca tctttaccag gagtagattt tatctcaaga gaccactctt
 ttgctcattc ataaggcgca actcttttgt taaggttttc ttatgagatc agagcaatcc
 agtcacatct tcaggcttca cttttaatgc tagttctttt tctatttcca ccacatgtac
 agaatattaa ttcttcactg aagtcttgaa cccctcaaag tcatctgtga gagttggaat
 taagttaata cttcttttaa actcctgtta gtgttagtat tttgacctcc taccatgaat
 cataaatgtt cttaatggca tctaggatag tgaaattttt ccagaaagtt ttcagtttac
 tttgcccata tccatcagag gatgcacaat ctgtggtagc tacagcctta tgaaatgcat
 ttcttaaata agacgtgaaa gtcaaaatta ctccttggtc catgggctgc aaaatgcatg
 ttgtattagc agacataaag ccaacatcaa tctccttgta catctccatt agagcttttg
 ggtgaccagg tgctttgtca atgagcagta accttttaaa agaaatcttt ttttctgagc
 agtgggtctc aacagtaggc ataaaatatt gagtaaacaa tcctgtaaac agatatgcta
 tcatccaggc tttccattta catcatccag gtggttccat ttgcagagca aagacagagt
 agatttagca tcattcttac gggccctagg atttttggaa tggtaaatga gcgctgactt
 caatatcaag tcaccactgc actagcctct aacaggagag tcagcctgtc ctttgaagct
 gtgaagctag gcattgactt tcctctctag ctatgaaagt cctagatagg atcttcttcc
 aataaaaagg ttgttttatc tacattaaca atctattgtg tagtgtagct gtcttcatca
 aagattttag ctagatcttc tagagaactt gtggcatctt ctccactagc acctgctgct
 tcacctttaa cttttatgtt atgaagatgg cttctttcct taaacctcat gaaccaacct
 ctgctagctt ccagcctttc ttctgcagct tctttacctc tctcaggctt catagaattg
 aaaagagcta gggcctttct ctggattagg ctttggctta agggaatgtt gtggatagtt
 tggtcttcta tgcagaccac tgaaactttt tccatatcaa caataaggct tttcaagttt
 cttatcattt gtatgttttc tggagtagta cttttaattt cctctgagaa cttttcattt
 gcgttcacaa tttggctgct tggtgaaaga ggcctagctg ttggcctatt tcagttttta
 acatgcctgc ctcactaaac ttagtcattc ctagtttttt atttaaagtg agagatatgt
 aactctttat ttcactttaa catttaaaag tcatggtaga gttataaatt ggcttaatta
 aaatattatt atatctcagg gaatagggaa acctaagaag agagagagag aaatagggga
 aaggccagtc agtggagcag tcagaacatg cgacatttag ccattaagtt cgttgtctga
 tgtgggtgca gtttgtggca tcccaaaaca attacaacag taacgtcaaa gatcactgat
 cataaattgc cataacagat ataaaaataa tggaaaagct tgaattactt tgagaattgg
 caaaatgtga cacagaaaca gtaagtgagc acatgctgtt ggaaaaatgg caccgatgga
 cttggtcaat gagttaccac aaatcttcaa tttgtgaaaa gtgcaggatg tatgaagtgc
 agtaaagcaa agtgcaataa aatgaggcat acTCAGATAT TGATTTTGCA ATGCTGTATA
 GTATTCATAA ATCTCCTTAG AATACAACGC TTCCTTTTAC TTCATCACTG CTGTCTTAAA
 CCAACATGTT GGGTAATAGA ACATTTGGAA AACATTCAAA ACTATTTTGT ATCTGTTTCT
 GTATTTTA
 R
 GATTGTGTCA GGTTTCTTTA GATACCACGC ATGTATTTTA AAGATTTAAG GGCAGTTTAG
 GATGATATGT TTTCCTTTCA ATGTACTTCT CTGTAAAAAC CAGCATTGAA ATTTTGCTTT
 AGTACTGTAT GAAAATGTGA GGTCAAGTTT TATTTTGTAC TTGTTTAAAC AATTGTGTCA
 TAAATCCATG ATGTCTGTCT

  GeneView back to top
GeneView via analysis of contig annotation: MAP2 microtubule-associated protein 2
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_001039538
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_005403->NM_001039538->NP_00103462760617833forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs288071 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_001838863.135809961202253655plusAalt_assembly_8HuRefHuRefview2948
2NW_921618.115090751204176221plusAalt_assembly_1CeleraCeleraview2948
2NT_005403.1660617833210116661plusAref_assemblyreferencereferenceview2948

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000002.6 AC036175 AC036175.2
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1956925HapMap-CEUEuropean 120IG 0.750 0.250 0.273 0.875 0.125
HapMap-HCBAsian 90IG 0.689 0.289 0.022 1.000 0.833 0.167
HapMap-JPTAsian 88IG 0.614 0.318 0.068 0.584 0.773 0.227
HapMap-YRISub-Saharan African 120IG 0.100 0.517 0.383 0.343 0.358 0.642
ss23236732AFD_EUR_PANELEuropean 48IG 0.750 0.208 0.042 0.439 0.854 0.146
AFD_AFR_PANELAfrican American 46IG 0.174 0.652 0.174 0.150 0.500 0.500
AFD_CHN_PANELAsian 48IG 0.708 0.208 0.083 0.150 0.812 0.188

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.417+/-0.18633226090

  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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .