Full data view for gene TMEM240

Information The variants shown are described using the NM_001114748.1 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 3 c.239C>T r.(?) p.(Thr80Met) Unknown g.1471103G>A Delplanque J et al. (2014) TMEM240_000002 - ? ? SCA Delplanque J et al. (2014) - - 1 XY Liu
./. 3 c.346C>T r.(?) p.(Arg116Cys) Unknown g.1470996G>A Delplanque J et al. (2014) TMEM240_000003 - ? ? SCA Delplanque J et al. (2014) - - 1 XY Liu
./. 4 c.445G>A r.(?) p.(Glu149Lys) Unknown g.1470816C>T Delplanque J et al. (2014) TMEM240_000004 - ? ? SCA Delplanque J et al. (2014) - - 1 XY Liu
./. 4 c.489C>G r.(?) p.(Tyr163*) Unknown g.1470772G>C Delplanque J et al. (2014) TMEM240_000006 - ? ? SCA Delplanque J et al. (2014) - - 1 XY Liu
./. 4 c.509C>T r.(?) p.(Pro170Leu) Unknown g.1470752G>A Delplanque J et al. (2014) TMEM240_000001 - ? ? SCA Delplanque J et al. (2014) - - 1 XY Liu
./. 4 c.509C>T r.(?) p.(Pro170Leu) Unknown g.1470752G>A Zeng S et al. (2016) TMEM240_000001 - ? ? SCA Zeng S et al. (2016) - - 1 XY Liu
./. 4 c.511C>T r.(?) p.(Arg171Trp) Unknown g.1470750G>A Delplanque J et al. (2014) TMEM240_000005 - ? ? SCA Delplanque J et al. (2014) - - 1 XY Liu
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