Transcript #00001148

Transcript name transcript variant 1
Gene name SLC25A12 (solute carrier family 25 (aspartate/glutamate carrier), member 12)
Chromosome 2
Transcript - NCBI ID NM_003705.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003696.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-56_-55insGC p.(=) - - - -
./. - - c.-55C>T p.(=) - - - -
./. - - c.4G>A p.(Ala2Thr) - - - -
./. - - c.13G>A p.(Val5Met) - - - -
./. - - c.67-6T>A p.(=) - - - -
./. - - c.99T>C p.(=) - - - -
./. - - c.125G>A p.(Arg42His) - - - -
./. - - c.189A>G p.(=) - - - -
+?/+? - - c.210-21A>G p.(=) - - - -
./. - - c.466-3C>T p.? - - - -
./. - - c.659A>G p.(Asn220Ser) - - - -
./. - - c.728G>A p.(Arg243Lys) - - - -
./. - - c.737T>C p.(Val246Ala) - - - -
./. - - c.957C>A p.(=) - - - -
./. - - c.1058G>A p.(Arg353Gln) - - - -
./. - - c.1338A>C p.(=) - - - -
./. - - c.1418G>A p.(Arg473Gln) - - - -
./. - - c.1458G>A p.(=) - - - -
./. - - c.1468C>T p.(Arg490*) - - - -
./. - - c.1618G>A p.(Asp540Asn) - - - -
./. - - c.1654G>A p.(Ala552Thr) - - - -
./. - - c.1665G>A p.(=) - - - -
+/+ - 17/18 c.1769A>G p.(Gln590Arg) probably_damaging(0.962) missense_variant - deleterious(0.01)
./. - - c.1769A>G p.(Gln590Arg) - - - -
./. - - c.1909G>A p.(Gly637Ser) - - - -
./. - - c.1934C>T p.(Thr645Met) - - - -
./. - - c.*72T>A p.(=) - - - -
./. - - c.*124G>A p.(=) - - - -
./. - - c.*165C>T p.(=) - - - -
./. - - c.*694G>C p.(=) - - - -
./. - - c.*739G>C p.(=) - - - -
./. - - c.*754C>A p.(=) - - - -
./. - - c.*965A>G p.(=) - - - -
./. - - c.*988C>T p.(=) - - - -
./. - - c.*994C>T p.(=) - - - -
./. - - c.*995G>A p.(=) - - - -
./. - - c.*1050G>A p.(=) - - - -
./. - - c.*1161T>C p.(=) - - - -
./. - - c.*1251A>G p.(=) - - - -
./. - - c.*1281G>A p.(=) - - - -
./. - - c.*1553T>C p.(=) - - - -
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