Results for the protein: NP

Results for the Protein: NP_001035518

94536850

55812

SPATA7

NCBI

spermatogenesis-associated protein 7 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
LEBER CONGENITAL AMAUROSIS 3
RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED

3

7

3

7

0

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Default View:	RefSeq Protein: NP_001035518 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs10139784	Polymorphism	p.ARG502GLN	N/A
dbSNP	rs4904448	Polymorphism	p.ASP2ASN	N/A
dbSNP	rs61747004	Polymorphism	p.GLN63ARG	N/A
dbSNP	rs17124677	Polymorphism	p.GLY292GLU	N/A
dbSNP	rs35137272	Polymorphism	p.PHE87LEU	N/A
dbSNP	rs17124662	Polymorphism	p.SER133ASN	N/A
dbSNP	rs3179969	Polymorphism	p.VAL42MET	N/A
OMIM	609868.0003	Disease	p.ARG363TER	RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
OMIM	609868.0007	Disease	p.ARG53TER	LEBER CONGENITAL AMAUROSIS 3
OMIM	609868.0001	Disease	p.ARG76TER	LEBER CONGENITAL AMAUROSIS 3

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