Transcript #00000860 (NM_015922.2, NSDHL gene)

Transcript name transcript variant 1
Gene name NSDHL (NAD(P) dependent steroid dehydrogenase-like)
Chromosome X
Transcript - NCBI ID NM_015922.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_057006.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

50 entries on 1 page. Showing entries 1 - 50.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-1877A>T r.(?) p.(=)
?/. - c.-1540A>G r.(?) p.(=)
-?/. - c.-44+10G>A r.(=) p.(=)
-?/. - c.19G>A r.(?) p.(Glu7Lys)
-?/. - c.25A>G r.(?) p.(Met9Val)
-?/. - c.65C>T r.(?) p.(Thr22Ile)
-?/. - c.65C>T r.(?) p.(Thr22Ile)
-?/. - c.93G>T r.(?) p.(Lys31Asn)
-?/. - c.117A>T r.(?) p.(Arg39Ser)
-/. - c.132T>G r.(?) p.(Gly44=)
?/. 3 c.132T>G r.(?) p.(=)
?/. - c.132T>G r.(?) p.(=)
-/. - c.132T>G r.(?) p.(Gly44=)
?/. - c.132T>G r.(?) p.(=)
?/. - c.214G>A r.(?) p.(Gly72Arg)
-?/. - c.233T>C r.(?) p.(Val78Ala)
?/. - c.253C>G r.(?) p.(Leu85Val)
-?/. - c.268-15dup r.(=) p.(=)
-?/. - c.295A>G r.(?) p.(Asn99Asp)
-?/. - c.306C>T r.(?) p.(Phe102=)
-?/. - c.315G>A r.(?) p.(Ala105=)
-?/. - c.351T>C r.(?) p.(Phe117=)
-?/. - c.356G>A r.(?) p.(Arg119Lys)
-?/. - c.356G>A r.(?) p.(Arg119Lys)
-?/. - c.356G>A r.(?) p.(Arg119Lys)
+/. 5 c.455G>A r.(?) p.(Gly152Asp)
-?/. - c.457G>A r.(?) p.(Val153Ile)
-?/. - c.543+8C>T r.(=) p.(=)
-?/. - c.627G>A r.(?) p.(Pro209=)
-?/. - c.678C>T r.(?) p.(Phe226=)
-?/. - c.678C>T r.(?) p.(Phe226=)
-?/. - c.726C>T r.(?) p.(Asn242=)
?/. - c.789+235G>C r.(=) p.(=)
?/. - c.789+235G>C r.(=) p.(=)
-?/. - c.834C>T r.(?) p.(Phe278=)
-?/. - c.841C>T r.(?) p.(Arg281Cys)
?/. - c.904T>C r.(?) p.(Tyr302His)
?/. - c.947C>G r.(?) p.(Pro316Arg)
?/. - c.947C>G r.(?) p.(Pro316Arg)
-?/. - c.1020C>T r.(?) p.(Cys340=)
-?/. - c.1020C>T r.(?) p.(Cys340=)
-?/. - c.1054C>T r.(?) p.(Leu352=)
?/. 8 c.1054C>T r.(?) p.(=)
-?/. - c.1054C>T r.(?) p.(Leu352=)
-/. - c.1087G>A r.(?) p.(Val363Met)
?/. 8 c.1098dup r.(?) p.(Arg367Serfs*33)
?/. - c.1108C>T r.(?) p.(Arg370Trp)
-?/. - c.1108C>T r.(?) p.(Arg370Trp)
-?/. - c.1109G>A r.(?) p.(Arg370Gln)
-?/. - c.1109G>A r.(?) p.(Arg370Gln)
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