Transcript #00000314

Transcript name transcript variant X3
Gene name SUCLA2 (succinate-CoA ligase, ADP-forming, beta subunit)
Chromosome 13
Transcript - NCBI ID XM_005266581.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005266638.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-548C>G p.? - - - -
./. - - c.-547G>A p.? - - - -
./. - - c.-533G>T p.(=) - - - -
./. - - c.-511T>G p.(=) - - - -
./. - - c.-479C>T p.(=) - - - -
./. - - c.-432C>G p.(=) - - - -
./. - - c.-422G>A p.(=) - - - -
./. - - c.-390T>G p.(=) - - - -
./. - - c.-264C>T p.(=) - - - -
./. - - c.-244A>G p.(=) - - - -
./. - - c.-131-13G>C p.(=) - - - -
./. - - c.-131-2A>G p.? - - - -
./. - - c.-129T>G p.(=) - - - -
./. - - c.-51G>A p.(=) - - - -
+/+ - - c.-51G>A p.(=) - - - -
./. - - c.-32+9C>T p.(=) - - - -
./. - - c.-30C>T p.(=) - - - -
./. - - c.108A>G p.(=) - - - -
./. - - c.115A>G p.(Met39Val) - - - -
./. - - c.132+1G>A p.? - - - -
+/+ - - c.132+1G>A p.? - splice_donor_variant - -
./. - - c.193T>A p.(Ser65Thr) - - - -
./. - - c.215A>G p.(Glu72Gly) - - - -
+/+ - 7/12 c.349G>A p.(Asp117Asn) possibly_damaging(0.875) missense_variant - deleterious(0)
./. - - c.349G>A p.(Asp117Asn) - - - -
./. - - c.387T>C p.(=) - - - -
./. - - c.400+4A>G p.? - - - -
./. - - c.409A>G p.(Met137Val) - - - -
./. - - c.413A>T p.(Asp138Val) - - - -
./. - - c.415G>A p.(Ala139Thr) - - - -
+/+ - 8/12 c.448C>T p.(Arg150Cys) benign(0.136) missense_variant - deleterious(0)
./. - - c.448C>T p.(Arg150Cys) - - - -
./. - - c.518C>T p.(Ala173Val) - - - -
./. - - c.672A>C p.(=) - - - -
./. - - c.697G>A p.(Asp233Asn) - - - -
./. - - c.948G>A p.(=) - - - -
./. - - c.*35T>G p.(=) - - - -
./. - - c.*195A>G p.(=) - - - -
./. - - c.*205T>C p.(=) - - - -
./. - - c.*217T>C p.(=) - - - -
./. - - c.*220C>T p.(=) - - - -
./. - - c.*297_*299del p.(=) - - - -
./. - - c.*328A>G p.(=) - - - -
./. - - c.*331C>A p.(=) - - - -
./. - - c.*349C>G p.(=) - - - -
./. - - c.*431G>C p.(=) - - - -
./. - - c.*468A>G p.(=) - - - -
./. - - c.*661C>A p.(=) - - - -
./. - - c.*661C>G p.(=) - - - -
./. - - c.*714_*715insG p.(=) - - - -
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