CHMP1A gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

CHMP1A (charged multivesicular body protein 1A)

LOVD v.3.0 Build 21 [ Current LOVD status ]
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	Curator: Lishuang Shen

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CHMP1A gene homepage

General information
Gene symbol	CHMP1A
Gene name	charged multivesicular body protein 1A
Chromosome	16
Chromosomal band	q24.3
Imprinted	Unknown
Genomic reference	NG_033005.1
Transcript reference	NM_002768.3, NM_002768.4
Associated with diseases	-
Citation reference(s)	-
Curators (1)	Lishuang Shen
Total number of public variants reported	1
Unique public DNA variants reported	1
Individuals with public variants	0
Hidden variants	0
Download all this gene's data	Download all data
Date created	April 18, 2014
Date last updated	April 18, 2014
Version	CHMP1A:140418

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC	8740
Entrez Gene	5119
PubMed articles	CHMP1A
OMIM - Gene	164010
HGMD	CHMP1A
GeneCards	CHMP1A
GeneTests	CHMP1A

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00003252	16	transcript variant 2	NM_002768.3	NP_002759.2	1
00003341	16	transcript variant 2	NM_002768.4	NP_002759.2	1

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