View transcript #00000657

Transcript name transcript variant 1
Gene name CPS1 (carbamoyl-phosphate synthase 1, mitochondrial)
Chromosome 2
Transcript - NCBI ID NM_001122633.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001116105.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 3/5 c.148C>T p.? - stop_gained - -
+/+ - 11/39 c.1028A>G p.? probably_damaging(0.999) missense_variant - deleterious(0)
+/+ - 16/39 c.1649C>T p.? possibly_damaging(0.755) missense_variant - deleterious(0)
?/? - 18/39 c.1936G>T p.? benign(0.007) missense_variant - tolerated(0.14)
+/+ - 20/39 c.2377C>T p.? - stop_gained - -
?/? - 22/39 c.2641A>G p.? benign(0.189) missense_variant - deleterious(0.01)
+/+ - 25/39 c.2963G>A p.? probably_damaging(1) missense_variant - deleterious(0)
+/+ - 25/39 c.2963G>T p.? probably_damaging(1) missense_variant - deleterious(0)
?/? - 31/39 c.3661A>G p.? benign(0.036) missense_variant - deleterious(0.02)
+?/+? - 37/39 c.4214A>C p.? benign(0.015) missense_variant - tolerated(0.96)
./. - 37/39 c.4235C>A p.(Thr1412Asn) benign(0.01) missense_variant - tolerated(0.25)
?/? - 37/39 c.4235C>A p.? benign(0.01) missense_variant - tolerated(0.25)
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