Transcript #00012577

Transcript name Norrie disease (pseudoglioma)
Gene name NDP (Norrie disease (pseudoglioma))
Chromosome X
Transcript - NCBI ID NM_000266.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000257.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-51_-50insT r.(=) p.(=)
?/? c.5G>T r.(?) p.(Arg2Ile)
?/? c.11A>T r.(?) p.(His4Leu)
?/? c.62A>G r.(?) p.(Asp21Gly)
?/? c.69C>G r.(?) p.(Asp23Glu)
?/? c.92T>A r.(?) p.(Ile31Lys)
?/? c.101C>T r.(?) p.(Ser34Leu)
?/? c.174+19_174+20del r.(=) p.(=)
?/? c.174+42A>G r.(=) p.(=)
?/? c.175-45G>A r.(=) p.(=)
?/? c.175-31A>G r.(=) p.(=)
?/? c.175A>C r.(?) p.(Met59Leu)
?/? c.*3C>A r.(=) p.(=)
?/? c.*10C>G r.(=) p.(=)
?/? c.*14G>A r.(=) p.(=)
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