Transcript #00000478

Transcript name transcript variant 2
Gene name ASS1 (argininosuccinate synthase 1)
Chromosome 9
Transcript - NCBI ID NM_054012.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_446464.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 3/16 c.40G>A p.(Gly14Ser) possibly_damaging(0.773) missense_variant - deleterious(0.02)
+/+ - 3/16 c.53C>T p.(Ser18Leu) probably_damaging(0.996) missense_variant - deleterious(0)
+/+ - 5/16 c.256C>T p.(Arg86Cys) benign(0.131) missense_variant - tolerated(0.09)
+/+ - 5/16 c.323G>T p.(Arg108Leu) benign(0.001) missense_variant - tolerated(0.06)
+/+ - 7/16 c.470G>A p.(Arg157His) benign(0.047) missense_variant - deleterious(0)
+/+ - 8/16 c.535T>C p.(Trp179Arg) probably_damaging(0.998) missense_variant - deleterious(0)
+/+ - 8/16 c.539G>A p.(Ser180Asn) benign(0.341) missense_variant - deleterious(0)
+/+ - 12/16 c.787G>A p.(Val263Met) probably_damaging(0.978) missense_variant - deleterious(0)
+/+ - 12/16 c.835C>T p.(Arg279*) - stop_gained - -
+/+ - 13/16 c.910C>T p.(Arg304Trp) benign(0.222) missense_variant - deleterious(0.04)
?/? - 13/16 c.919C>T p.(Arg307Cys) benign(0.06) missense_variant - tolerated(0.11)
+/+ - 13/16 c.928A>C p.(Lys310Gln) probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - 13/16 c.970G>A p.(Gly324Ser) probably_damaging(0.964) missense_variant,splice_region_variant - deleterious(0.03)
+/+ - 14/16 c.1087C>T p.(Arg363Trp) benign(0.386) missense_variant - deleterious(0.04)
+/+ - 15/16 c.1168G>A p.(Gly390Arg) probably_damaging(0.938) missense_variant - deleterious(0.03)
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