Transcript #00001733 (NM_001669.3, ARSD gene)

Transcript name arylsulfatase D
Gene name ARSD (arylsulfatase D)
Chromosome X
Transcript - NCBI ID NM_001669.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001660.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

33 entries on 1 page. Showing entries 1 - 33.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.278G>A r.(?) p.(Arg93Gln)
?/. - c.439+234dup r.(=) p.(=)
./. - c.440-151A>C r.(=) p.(=)
?/. 5 c.470C>T r.(?) p.(Ser157Phe)
?/. 5 c.497T>A r.(?) p.(Leu166Gln)
?/. 5 c.524G>A r.(?) p.(Gly175Asp)
?/. 5 c.527T>A r.(?) p.(Met176Lys)
?/. 5 c.570C>T r.(?) p.(=)
?/. 5 c.624G>C r.(?) p.(=)
?/. 5 c.648C>T r.(?) p.(=)
?/. 5 c.661G>A r.(?) p.(Gly221Ser)
?/. 5 c.667T>A r.(?) p.(Phe223Ile)
?/. 5 c.667T>C r.(?) p.(Phe223Leu)
?/. 5 c.671C>G r.(?) p.(Ser224Cys)
?/. 5 c.693C>T r.(?) p.(=)
-?/. - c.693C>T r.(?) p.(Thr231=)
?/. 5 c.701_730del r.(?) p.(Ala234_Trp244delinsGly)
-?/. - c.789C>T r.(?) p.(Asp263=)
?/. - c.1000+389_1000+390insTTA r.(=) p.(=)
?/. - c.1000+390_1000+391insCA r.(=) p.(=)
?/. - c.1000+675_1000+676dup r.(=) p.(=)
?/. - c.1000+675_1000+676dup r.(=) p.(=)
?/. - c.1000+715_1000+716dup r.(=) p.(=)
?/. - c.1000+715_1000+716dup r.(=) p.(=)
?/. - c.1000+825C>T r.(=) p.(=)
?/. - c.1000+989_1000+990insGGGATTAGT r.(=) p.(=)
?/. - c.1136-338_1136-337insTTA r.(=) p.(=)
?/. - c.1136-338_1136-337insTTA r.(=) p.(=)
-?/. - c.1209G>A r.(?) p.(Pro403=)
-?/. - c.1600G>A r.(?) p.(Glu534Lys)
-?/. - c.1655G>A r.(?) p.(Arg552Gln)
?/. 10 c.1691T>C r.(?) p.(Met564Thr)
-?/. - c.1745T>C r.(?) p.(Phe582Ser)
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