View transcript #00000659

Transcript name transcript variant 3
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001122634.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116106.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

10 entries on 1 page. Showing entries 1 - 10.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - - c.-1971A>G p.(=) - - - -
+/+ - 5/28 c.278C>T p.(Thr93Met) possibly_damaging(0.573) missense_variant - deleterious(0)
?/? - 7/28 c.565G>T p.(Ala189Ser) benign(0.012) missense_variant - tolerated(0.17)
+/+ - 9/28 c.1006C>T p.(Arg336*) - stop_gained - -
?/? - 11/28 c.1270A>G p.(Lys424Glu) benign(0.281) missense_variant - deleterious(0.04)
+/+ - 14/28 c.1592G>A p.(Gly531Asp) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 14/28 c.1592G>T p.(Gly531Val) probably_damaging(1) missense_variant - deleterious(0)
?/? - 20/28 c.2290A>G p.(Ile764Val) benign(0.032) missense_variant - deleterious(0.03)
+?/+? - 26/28 c.2843A>C p.(Asn948Thr) benign(0.026) missense_variant - tolerated(0.72)
./. - 26/28 c.2864C>A p.(Thr955Asn) benign(0.017) missense_variant - tolerated(0.26)
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