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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12864750          
refSNP ID: rs12864750
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
Map to Genome Build:36.3
Allele
Variation Class:MIXED:
cluster contains submissions from 2 or more alleleic classes
RefSNP Alleles:-/A/T
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_130785.2:c.510+1904A>T
NM_199254.1:c.741+1904A>T
NT_024524.13:g.1016692T>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 ss21078730 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12864750 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
ss21078730SSAHASNP|WGSA-200403-chr13.chr13.NT_024524.13_1016692fwd/TA/Tctgtttttaacatttcctttttttttttttaatttttttggatacaatcttgctctgtca03/19/0403/19/04121Genomicunknown
ss40310107ABI|hCV32228273fwd/-/Tctgtttttaacatttcctttttttttttttaatttttttggatacaatcttgctctgtca07/16/0507/16/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12864750|allelePos=501|totalLen=1001|taxid=9606|snpclass=7|alleles='-/A/T'|mol=Genomic|build=126
 ttcatttttt tctggttgtt ttgtatatcc tttgttcttt tcttcaccta ttttttttta
 atctttgtgg tttggtcatt ttctgtagca acaaagtttg attcctttct ctttctcagg
 tgtatatctg tactaccagt gagttttata cttttgtgtg ttttgacaat ggtaatcatc
 ctcttgcttc cagatgtaga accaccttaa agcagtcctt gaaaggtcag tctagtggga
 atgaattcct tcagtttttg cttgtctagg aaatacttta tttctccctc atttctaggg
 gatagctcta ctaggtatag tattcttggt tgacagtttt ttttttcctt cagtactttg
 tgaatatatc atcccatctt attgtctact gacctgtaaa gtttccactg ggaaatccac
 tgttaatcaa atggagtttc tcttatatgt gacttgatgc ttttttcttg ctgtttttaa
 catttccttt tttttttttt
 N
 aatttttttg gatacaatct tgctctgtca cccaggctgt agtgcagtgg tgtgatcttg
 gcccactgca acctccacct cctgggttta agcaattctc gtgatttagc ctcccaagta
 actggaacta caggttcacg ccaccacacc tagctaattt ttttctattg tttgtagaaa
 tgtggtttct tcatgttggc catgctcgcc ttgaactcct ggcctcaagt gatccaccct
 cctcagcctc ccaaagtgct gggattacag gtgtgagcca ctgcacctga cgaatattcc
 ctctttttga cttttgacag tttgactact atgcacctca gagaagacct ttttgggttg
 aatctatttg agaaccttcg agcttcctag attttggcca tatctctCCC ATGTCTGTTT
 TTAAAGCTCT TGATTGTAtt tttttttttc agacagggta tcactctgcc acccaggctg
 gagtgcagtg gcacaatcTT

  GeneView back to top
GeneView via analysis of contig annotation: TPTE2 transmembrane phosphoinositide 3-phosphatase and tensin homolog 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_024524->NM_130785
function
referenceNT_024524->NM_199254
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_024524->NM_130785->NP_5701411016692reverseintron
referenceNT_024524->NM_199254->NP_9548631016692reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12864750 maps exactly once on NCBI human chromosome 13
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
13NW_001838069.1841530^841531841530^841531plus-alt_assembly_8HuRefHuRefview500..500
13NW_925473.18337901098566plusTalt_assembly_1CeleraCeleraview500
13NT_024524.13101669218934692plusTref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024524
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL590076.4 AL450318.10 AL590046.3

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .