Unique variants in gene TMEM127

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-10G>C r.(=) p.(=) g.96931129C>G - TMEM127_000002 - - - - Despoina Kalfakakou
./. 1 - c.40C>G r.(?) p.(Arg14Gly) g.96931080G>C - TMEM127_000013 - - - - Despoina Kalfakakou
./. 2 - c.154G>T r.(?) p.(Ala52Ser) g.96930966C>A - TMEM127_000009 - - - - Despoina Kalfakakou
./. 1 - c.213G>A r.(=) p.(=) g.96930907C>T - TMEM127_000006 - - - - Despoina Kalfakakou
./. 1 - c.245-45C>G r.(=) p.(=) g.96920780G>C - TMEM127_000008 - - - - Despoina Kalfakakou
./. 2 - c.245A>G r.(?) p.(Asp82Gly) g.96920735T>C - TMEM127_000007 - - - - Despoina Kalfakakou
./. 2 - c.267A>G r.(=) p.(=) g.96920713T>C - TMEM127_000003 - - - - Despoina Kalfakakou
./. 1 - c.292G>A r.(?) p.(Ala98Thr) g.96920688C>T - TMEM127_000005 - - - - Despoina Kalfakakou
./. 1 - c.333C>T r.(=) p.(=) g.96920647G>A - TMEM127_000010 - - - - Despoina Kalfakakou
./. 1 - c.393C>T r.(=) p.(=) g.96920587G>A - TMEM127_000012 - - - - Despoina Kalfakakou
./. 4 - c.394G>A r.(?) p.(Ala132Thr) g.96920586C>T - TMEM127_000004 - - - - Despoina Kalfakakou
./. 6 - c.409+7C>T r.(=) p.(=) g.96920564G>A - TMEM127_000001 - - - - Despoina Kalfakakou
./. 1 - c.565C>T r.(=) p.(=) g.96919698G>A - TMEM127_000011 - - - - Despoina Kalfakakou
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