View transcript #00000658

Transcript name transcript variant 2
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001875.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001866.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 4/5 c.130C>T p.(Gln44*) - stop_gained - -
+/+ - 10/38 c.1010A>G p.(His337Arg) probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - 15/38 c.1631C>T p.(Thr544Met) possibly_damaging(0.573) missense_variant - deleterious(0)
?/? - 17/38 c.1918G>T p.(Ala640Ser) benign(0.012) missense_variant - tolerated(0.14)
+/+ - 19/38 c.2359C>T p.(Arg787*) - stop_gained - -
?/? - 21/38 c.2623A>G p.(Lys875Glu) benign(0.281) missense_variant - deleterious(0.01)
+/+ - 24/38 c.2945G>A p.(Gly982Asp) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 24/38 c.2945G>T p.(Gly982Val) probably_damaging(1) missense_variant - deleterious(0)
?/? - 30/38 c.3643A>G p.(Ile1215Val) benign(0.032) missense_variant - deleterious(0.02)
+?/+? - 36/38 c.4196A>C p.(Asn1399Thr) benign(0.026) missense_variant - tolerated(0.98)
./. - 36/38 c.4217C>A p.(Thr1406Asn) benign(0.017) missense_variant - tolerated(0.25)
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