Results for the protein: NP

Results for the Protein: NP_787120

28557777

286676

ILDR1

NCBI

immunoglobulin-like domain-containing receptor 1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
DEAFNESS, AUTOSOMAL RECESSIVE 42

2

6

2

6

0

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Default View: LSR - pfam05624	RefSeq Protein: NP_787120 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35906279	Polymorphism	p.ARG389GLN	N/A
dbSNP	rs34883204	Polymorphism	p.ARG398HIS	N/A
dbSNP	rs34284625	Polymorphism	p.HIS456TYR	N/A
dbSNP	rs16832645	Polymorphism	p.ILE369THR	N/A
dbSNP	rs3915061	Polymorphism	p.PRO220ARG	N/A
dbSNP	rs35661993	Polymorphism	p.TRP344ARG	N/A
OMIM	609739.0003	Disease	p.GLN195TER	DEAFNESS, AUTOSOMAL RECESSIVE 42
OMIM	609739.0001	Disease	p.GLU335TER	DEAFNESS, AUTOSOMAL RECESSIVE 42

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