Transcript #00003290

Transcript name presenilin 2 (Alzheimer disease 4), transcript variant 1
Gene name PSEN2 (presenilin 2)
Chromosome 1
Transcript - NCBI ID NM_000447.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000438.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

1 entry on 1 page. Showing entry 1.
Legend  

Affects function     

AscendingDNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
+/+ c.389C>T p.(Ser130Leu) missense_variant,NMD_transcript_variant - 3/11 possibly_damaging(0.794) r.(?) deleterious(0.03)
Legend