GiiB-JST mtSNP statistics

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GiiB-JST mtSNP specifications

Information


Unique identifier OMICS_22461
Name GiiB-JST mtSNP
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

Publication for GiiB-JST mtSNP

GiiB-JST mtSNP citations

 (4)
library_books

The Mitochondrial DNA Northeast Asia CZD Haplogroup Is Associated with Good Disease Free Survival among Male Oral Squamous Cell Carcinoma Patients

2012
PLoS One
PMCID: 3504154
PMID: 23185408
DOI: 10.1371/journal.pone.0049684

[…] respectively. Finally, the variants were classified as evolutionary conserved (EC) or non-conserved (EU) based on sequence alignments with ten mammalian orthologs using the mtSAP Evaluation from the GiiB-JST mtSNP (mitochondrial single nucleotide polymorphism) database . […]

call_split

Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus

2012
BMC Res Notes
PMCID: 3434112
PMID: 22780954
DOI: 10.1186/1756-0500-5-350
call_split See protocol

[…] Sequences were compared to the revised Cambridge reference sequence [GenBank:NC_012920] [] and to mtDNA sequences available in the GiiB-JST mtSNP database http://mtsnp.tmig.or.jp/mtsnp/index_e.shtml[], mtDB Human Mitochondrial Genome database http://www.mtdb.igp.uu.se[] and Mitomap http://www.mitomap.org[] accessed in October 201 […]

call_split

A new phenotype of mitochondrial disease characterized by familial late onset predominant axial myopathy and encephalopathy

2011
Acta Neuropathol
PMCID: 3098999
PMID: 21424749
DOI: 10.1007/s00401-011-0818-y
call_split See protocol

[…] ence alignment program (Gene Codes, Ann Arbor, MI, USA).The polymorphic and pathogenic natures of the confirmed mutations were checked against two databases: the MITOMAP (http://www.mitomap.org/) and GiiB-JST mtSNP database (http://mtsnp.tmig.or.jp/mtsnp/index.shtml). […]

library_books

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

2010
PLoS One
PMCID: 2941448
PMID: 20862300
DOI: 10.1371/journal.pone.0012801

[…] compared with the revised Cambridge reference sequence, CRS (). Discrepancies were analyzed in the human mitochondrial genome databases MITOMAP (www.mitomap.org), mtDB (www.genpat.uu.se/mtDB/), and GiiB-JST mtSNP (http://mtsnp.tmig.or.jp/mtsnp/index_e.shtml). To quantify the heteroplasmy levels of the m.15533 A>G mutation, PCR-restriction fragment length polymorphism (RFLP) analysis was performe […]

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