Results for the protein: NP

Results for the Protein: NP_004306

189011546

427

ASAH1

NCBI

acid ceramidase isoform b [Homo sapiens]

Known Diseases associated with this Protein:
FARBER LIPOGRANULOMATOSIS
SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY

6

5

6

5

0

Tips:

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Default View: Ntn_AC_NAAA - cd01903 CBAH - pfam02275 Ntn_hydrolase - cd01901 Ntn_CGH_like - cd01935	RefSeq Protein: NP_004306 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ntn_hydrolase	cd01901	0.00054	159	376
Ntn_CGH_like	cd01935	7.1e-72	159	391
CBAH	pfam02275	2.6e-127	159	410

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2472205	Polymorphism	p.ASP140GLU	N/A
dbSNP	rs1049874	Polymorphism	p.ILE109VAL	N/A
dbSNP	rs13263632	Polymorphism	p.SER36ASN	N/A
dbSNP	rs10103355	Polymorphism	p.VAL262ALA	N/A
dbSNP	rs1071645	Polymorphism	p.VAL88MET	N/A
OMIM	613468.0004	Disease	p.ASN320ASP	FARBER LIPOGRANULOMATOSIS
OMIM	613468.0002	Disease	p.GLU138VAL	FARBER LIPOGRANULOMATOSIS
OMIM	613468.0005	Disease	p.LEU182VAL	FARBER LIPOGRANULOMATOSIS
OMIM	613468.0001	Disease	p.THR222LYS	FARBER LIPOGRANULOMATOSIS
OMIM	613468.0006	Disease	p.THR42MET	SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
OMIM	613468.0003	Disease	p.TYR36CYS	FARBER LIPOGRANULOMATOSIS

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