Transcript #00001152

Transcript name solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
Gene name SLC25A15 (solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15)
Chromosome 13
Transcript - NCBI ID NM_014252.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055067.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

99 entries on 1 page. Showing entries 1 - 99.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.-320G>C p.(=) - - - -
./. - - c.-304C>G p.(=) - - - -
./. - - c.-274T>C p.(=) - - - -
./. - - c.-273C>G p.(=) - - - -
./. - - c.-259G>C p.(=) - - - -
./. - - c.-245C>T p.(=) - - - -
./. - - c.-167G>A p.(=) - - - -
./. - - c.-101C>G p.(=) - - - -
./. - - c.-67A>T p.(=) - - - -
./. - - c.-41G>A p.(=) - - - -
./. - - c.44C>A p.(Ala15Glu) - - - -
+/+ - 2/7 c.44C>A p.(Ala15Glu) possibly_damaging(0.588) missense_variant - deleterious(0)
./. - - c.79G>A p.(Gly27Arg) - - - -
+/+ - 3/7 c.79G>A p.(Gly27Arg) possibly_damaging(0.879) missense_variant - deleterious(0)
+/+ - 3/7 c.95C>G p.(Thr32Arg) probably_damaging(0.977) missense_variant - deleterious(0)
./. - - c.95C>G p.(Thr32Arg) - - - -
./. - - c.110T>G p.(Met37Arg) - - - -
+/+ - 3/7 c.110T>G p.(Met37Arg) probably_damaging(0.934) missense_variant - deleterious(0)
./. - - c.117G>A p.(=) - - - -
./. - - c.182G>A p.(Arg61His) - - - -
+/+ - 3/7 c.212T>A p.(Leu71Gln) probably_damaging(0.995) missense_variant - deleterious(0)
./. - - c.212T>A p.(Leu71Gln) - - - -
./. - - c.225C>T p.(=) - - - -
./. - - c.278G>A p.(Arg93Gln) - - - -
./. - - c.333C>T p.(=) - - - -
+/+ - 4/7 c.337G>A p.(Gly113Ser) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 4/7 c.337G>T p.(Gly113Cys) probably_damaging(1) missense_variant - deleterious(0)
./. - - c.337G>T p.(Gly113Cys) - - - -
./. - - c.343T>G p.(Phe115Val) - - - -
./. - - c.345C>T p.(=) - - - -
./. - - c.380C>T p.(Thr127Met) - - - -
./. - - c.446del p.(Ser149Thrfs*45) - - - -
./. - - c.535C>T p.(Arg179*) - - - -
+/+ - 5/7 c.535C>T p.(Arg179*) - stop_gained - -
./. - - c.538G>A p.(Glu180Lys) - - - -
+/+ - 5/7 c.538G>A p.(Glu180Lys) probably_damaging(0.964) missense_variant - deleterious(0)
./. - - c.552T>C p.(=) - - - -
+?/+? - - c.553_555del p.(Phe188del) - - - -
./. - - c.553_555del p.(Phe188del) - - - -
./. - - c.562_564del p.(Phe188del) - - - -
?/? - - c.562_564del p.(Phe188del) - - - -
./. - - c.564C>G p.(Phe188Leu) - - - -
+/+ - 5/7 c.564C>G p.(Phe188Leu) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 5/7 c.564C>T p.(=) - synonymous_variant - -
./. - - c.565G>A p.(Gly189Ser) - - - -
./. - - c.569G>A p.(Gly190Asp) - - - -
+/+ - 5/7 c.569G>A p.(Gly190Asp) probably_damaging(0.993) missense_variant - deleterious(0)
./. - - c.632C>T p.(Pro211Leu) - - - -
+/+ - 6/7 c.658G>A p.(Gly220Arg) probably_damaging(0.967) missense_variant - deleterious(0)
./. - - c.658G>A p.(Gly220Arg) - - - -
./. - - c.760A>T p.(Ile254Leu) - - - -
./. - - c.789G>A p.(=) - - - -
+/+ - 7/7 c.815C>T p.(Thr272Ile) probably_damaging(0.918) missense_variant - deleterious(0)
./. - - c.815C>T p.(Thr272Ile) - - - -
+/+ - 7/7 c.818T>A p.(Met273Lys) benign(0.154) missense_variant - deleterious(0)
./. - - c.818T>A p.(Met273Lys) - - - -
./. - - c.823C>T p.(Arg275*) - - - -
+/+ - 7/7 c.823C>T p.(Arg275*) - stop_gained - -
+/+ - 7/7 c.824G>A p.(Arg275Gln) probably_damaging(0.996) missense_variant - deleterious(0)
./. - - c.824G>A p.(Arg275Gln) - - - -
./. - - c.847C>T p.(Leu283Phe) - - - -
+/+ - 7/7 c.847C>T p.(Leu283Phe) probably_damaging(0.998) missense_variant - deleterious(0)
./. - - c.*48T>A p.(=) - - - -
./. - - c.*58G>T p.(=) - - - -
./. - - c.*159C>G p.(=) - - - -
./. - - c.*217G>A p.(=) - - - -
./. - - c.*353A>G p.(=) - - - -
./. - - c.*420T>G p.(=) - - - -
./. - - c.*515A>G p.(=) - - - -
./. - - c.*579C>T p.(=) - - - -
./. - - c.*610G>T p.(=) - - - -
./. - - c.*639G>A p.(=) - - - -
./. - - c.*640C>T p.(=) - - - -
./. - - c.*684C>T p.(=) - - - -
./. - - c.*871T>C p.(=) - - - -
./. - - c.*898C>T p.(=) - - - -
./. - - c.*929G>C p.(=) - - - -
./. - - c.*1319G>C p.(=) - - - -
./. - - c.*1345G>C p.(=) - - - -
./. - - c.*1485T>A p.(=) - - - -
./. - - c.*1494A>G p.(=) - - - -
./. - - c.*1595G>A p.(=) - - - -
./. - - c.*1626A>G p.(=) - - - -
./. - - c.*1641G>T p.(=) - - - -
./. - - c.*1682C>T p.(=) - - - -
./. - - c.*1721C>T p.(=) - - - -
./. - - c.*1737G>A p.(=) - - - -
./. - - c.*1829_*1833del p.(=) - - - -
./. - - c.*1855C>A p.(=) - - - -
./. - - c.*1945G>A p.(=) - - - -
./. - - c.*1982A>C p.(=) - - - -
./. - - c.*2071C>T p.(=) - - - -
./. - - c.*2097T>A p.(=) - - - -
./. - - c.*2105A>T p.(=) - - - -
./. - - c.*2190T>C p.(=) - - - -
./. - - c.*2264C>T p.(=) - - - -
./. - - c.*2328G>T p.(=) - - - -
./. - - c.*2373T>C p.(=) - - - -
./. - - c.*2494G>A p.(=) - - - -
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