Results for the protein: NP

Results for the Protein: NP_001180231

300863076

64218

SEMA4A

NCBI

semaphorin-4A isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
CONE-ROD DYSTROPHY 10, INCLUDED
RETINITIS PIGMENTOSA 35

3

2

3

2

0

Tips:

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Default View: Sema - smart00630 Sema - pfam01403 PSI - pfam01437 PSI - smart00423 Ig_Sema4B_like - cd05872 Ig_Semaphorin_C - cd04979	RefSeq Protein: NP_001180231 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig_Sema4B_like	cd05872	1.7e-06	431	513
Sema	pfam01403	6e-111	1	346
PSI	pfam01437	2e-10	364	411
Sema	smart00630	2.8e-83	1	338
PSI	smart00423	5.4e-11	365	416

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2075164	Polymorphism	p.ARG378GLN	N/A
dbSNP	rs41265017	Polymorphism	p.ARG581GLN	N/A
OMIM	607292.0003	Disease	p.ARG581GLN	RETINITIS PIGMENTOSA 35
OMIM	607292.0001	Disease	p.ASP213HIS	RETINITIS PIGMENTOSA 35\|\|CONE-ROD DYSTROPHY 10, INCLUDED
OMIM	607292.0002	Disease	p.PHE218CYS	RETINITIS PIGMENTOSA 35\|\|CONE-ROD DYSTROPHY 10, INCLUDED

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