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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12932300          
refSNP ID: rs12932300
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001083614.1:c.486-3144G>T
NT_010393.15:g.14862904C>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 ss21358676 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12932300 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
ss21358676SSAHASNP|WGSA-200403-chr16.chr16.NT_010393.14_14862158fwd/TA/Cctgttttctaaatgttgttctccaagctgtatatgtttggattacagaacaacttgtaag03/19/0403/19/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12932300|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=121
 GAAGGctggg ctctagcaat ctgcccacct tggcctccca aagtgctggg attacaggca
 tgagccaccg cacctagctG GAACAGATAT TCTAATCGAT ACATTGATGA TGCAGTAAGA
 AAACTGTAAA GTCTGAGCCA TACAAAACCT ACACTATCCT AGTTGGGttt ttttgttttt
 tgttttgaga tggagtctcg ctctgtcacc caggctggag tgcagcggcg tgatcttggc
 tcactgtagc ctctgcctcc caggctccca agtagctggg attacaggtg cacgccacca
 tgcccagcta atttcagcag agatggggtt tcaccacgtt ggccaagctg gtctcgaatt
 cctgacctca ggtgatctgc ctacctcagc ctcccaaagt gctgggatta caggcgtgag
 ccaccgtgcc tggctTCTAG TTGTATTAAT CTGTCTTTTT ACATTGGCTT CTGTTTTCTA
 AATGTTGTTC TCCAAGCTGT
 M
 ATATGTTTGG ATTACAGAAC AACTTGTAAG ATGAATACTT GTTTTAAATG TGCATTATTG
 AATATGTTCT GTccaagtgc ggtggctcac tcctgtaatc ccagcatttc gggaggacaa
 ggcaggagaa ctgcttgagc ccaggagttc aaaaccaacc tgggtaacga gaccttgtct
 ctactagaaa tttaagaaaa aaaaagaatt agccgggcat ggtgggtaca tgtgtgtagt
 tccacccact tgggagactg aagcaggatt gcttgagccc aggaagtcaa ggctgtggtg
 agtcatgatt gcatcgctcc agcctgggtg acacagcaag accctgtctg gaaaaaaaaG
 TCCTAAGGGA AGCTAACTGT CAGCTTTATT AAGAAGGATT GCTTTGTACC TACCACCTAA
 TGTAAAATAA AACCAAGTAA TACATTCTCA ACAGTTATGG CCCCCCTCCt tttttttttt
 tttttttttt tGAGACAGGG

  GeneView back to top
GeneView via analysis of contig annotation: EARS2 glutamyl-tRNA synthetase 2, mitochondrial (putative)
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_010393->NM_001083614
svfunction
HuRefNW_001838401->NM_001083614
svfunction
CeleraNW_926217->NM_001083614
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010393->NM_001083614->NP_00107708314862904reverseintron
HuRefNW_001838401->NM_001083614->NP_00107708380434reverseintron
CeleraNW_926217->NM_001083614->NP_001077083848200reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12932300 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_001838401.18043421640675plusCalt_assembly_8HuRefHuRefview500
16NW_926217.184820022327996plusCalt_assembly_1CeleraCeleraview500
16NT_010393.151486290423457326plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010393
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC002400.1 NC_000016.8 AC131385.1

  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 .