Transcript #00013117

Transcript name transcript variant 1
Gene name ABHD12B (abhydrolase domain containing 12B)
Chromosome 14
Transcript - NCBI ID NM_001206673.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001193602.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

51 entries on 1 page. Showing entries 1 - 51.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.104+13C>T r.(=) p.(=)
./. - c.104+89G>T r.(=) p.(=)
./. - c.104+101G>A r.(=) p.(=)
./. - c.104+116A>G r.(=) p.(=)
./. - c.105-86_105-85insAA r.(=) p.(=)
./. - c.105-86_105-85insAAA r.(=) p.(=)
./. - c.105-86_105-85insAAAA r.(=) p.(=)
./. - c.105-3C>A r.spl? p.?
./. - c.335+34T>C r.(=) p.(=)
./. - c.335+89G>A r.(=) p.(=)
./. - c.336-147T>C r.(=) p.(=)
./. - c.336-63G>A r.(=) p.(=)
./. - c.456-102C>T r.(=) p.(=)
./. - c.456-96A>G r.(=) p.(=)
./. - c.456-32del r.(=) p.(=)
./. - c.456-32dup r.(=) p.(=)
./. - c.456-32_456-31insTT r.(=) p.(=)
./. - c.456-32_456-31insTTT r.(=) p.(=)
./. - c.486+1G>T r.spl? p.?
./. - c.486+76C>A r.(=) p.(=)
./. - c.486+77G>A r.(=) p.(=)
./. - c.486+155G>A r.(=) p.(=)
./. - c.500G>A r.(?) p.(Gly167Asp)
./. - c.533-20T>C r.(=) p.(=)
./. - c.575C>T r.(?) p.(Thr192Ile)
./. - c.615A>G r.(=) p.(=)
./. - c.657T>C r.(=) p.(=)
./. - c.663-129G>A r.(=) p.(=)
./. - c.663-91G>C r.(=) p.(=)
./. - c.700+91T>C r.(=) p.(=)
./. - c.701-38G>T r.(=) p.(=)
./. - c.701-25C>A r.(=) p.(=)
./. - c.701-21C>A r.(=) p.(=)
./. - c.755C>A r.(?) p.(Ala252Glu)
./. - c.781-52G>A r.(=) p.(=)
./. - c.818T>C r.(?) p.(Met273Thr)
./. - c.844A>G r.(?) p.(Ile282Val)
./. - c.863+57del r.(=) p.(=)
./. - c.863+63C>T r.(=) p.(=)
./. - c.863+87T>A r.(=) p.(=)
./. - c.863+104C>T r.(=) p.(=)
./. - c.863+127T>A r.(=) p.(=)
./. - c.864-60A>C r.(=) p.(=)
./. - c.943-8G>C r.(=) p.(=)
./. - c.1000T>C r.(?) p.(Phe334Leu)
./. - c.1003C>G r.(?) p.(Pro335Ala)
./. - c.1062-25G>A r.(=) p.(=)
./. - c.1086A>C r.(=) p.(=)
./. - c.*37C>T r.(=) p.(=)
./. - c.*46C>T r.(=) p.(=)
./. - c.*66C>T r.(=) p.(=)
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