Transcript #00005028

Transcript name emopamil binding protein (sterol isomerase)
Gene name EBP (emopamil binding protein (sterol isomerase))
Chromosome X
Transcript - NCBI ID NM_006579.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_006570.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

22 entries on 1 page. Showing entries 1 - 22.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-19G>A r.(=) p.(=)
?/? c.13G>A r.(?) p.(Ala5Thr)
?/? c.15G>T r.(=) p.(=)
?/? c.38C>G r.(?) p.(Pro13Arg)
?/? c.59A>C r.(?) p.(Asn20Thr)
?/? c.184C>A r.(=) p.(=)
?/? c.289T>C r.(=) p.(=)
?/? c.301+32A>T r.(=) p.(=)
?/? c.302-67C>A r.(=) p.(=)
?/? c.338+21A>G r.(=) p.(=)
?/? c.338+44G>T r.(=) p.(=)
?/? c.341G>T r.(?) p.(Gly114Val)
?/? c.360C>T r.(=) p.(=)
?/? c.382C>T r.(=) p.(=)
?/? c.415G>A r.(?) p.(Ala139Thr)
?/? c.469+34T>C r.(=) p.(=)
?/? c.469+39G>T r.(=) p.(=)
?/? c.511C>T r.(?) p.(Arg171Cys)
?/? c.512G>A r.(?) p.(Arg171His)
?/? c.513C>T r.(=) p.(=)
?/? c.564C>T r.(=) p.(=)
?/? c.650C>T r.(?) p.(Thr217Met)
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