Loading...

HOME > IMS BROWSER > LIST OF IMSS > DETAILED INFORAMTION OF IMS

IMS Browser

Detalied information of IMS

Entry Name

IMS000008

Normal sequences (IHP)

ENSP00000374547

Disease information

Source	OMIM No	OMIM TI	Association
OMIM	100710	*100710 CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1; CHRNB1;;CHRNB;; ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT; ACHRB	Positive
OMIM	100725	*100725 CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; CHRNE;;ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT; ACHRE	Positive
OMIM	100690	*100690 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1;;CHRNA;; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT; ACHRA	Positive

6 origin(s)

Name of sequence	Origin
100710.0003.D05	OMIM
100725.0006.D04	OMIM
100725.0008.D03	OMIM
100725.0011.P03	OMIM
100725.0011.P04	OMIM
607199.0006.P01	OMIM

Mutation Information

Type	Mutated Position (Amino acid)	Mutated Position (Nucleotide)	Mutation
Deletion	426 - 377	1276 - 1284	-> *

Amino acid length

13 aa

Amino acid sequence viewer

	\|......10\|.......20\|.......30\|.......40\|.......50\|.......60\|.......70\|.......80\|
+ 1	APVAHGALASPPA