C10orf2 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

C10orf2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

C10orf2

Gene name

chromosome 10 open reading frame 2

Chromosome

Chromosomal band

q24

Imprinted

Unknown

Genomic reference

NC_000010.10

Transcript reference

NM_001163812.1, NM_001163813.1, NM_001163814.1, NM_021830.4, XR_246100.1

Associated with diseases

MTDPS3, MTDPS7, PEOA3, SANDO

Citation reference(s)

Curators (0)

Total number of public variants reported

101

Unique public DNA variants reported

Individuals with public variants

Hidden variants

Download all this gene's data

Download all data

Notes

MSeqDR-LSDB

Date created

November 07, 2013

Graphical displays and utilities

Graphs

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

Entrez Gene

PubMed articles

OMIM - Gene

OMIM - Diseases

MTDPS3 (Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3))
MTDPS7 (Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3))
PEOA3 (PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3)
SANDO (Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3))

HGMD

C10orf2

GeneCards

C10orf2

GeneTests

C10orf2

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
00000057	10	transcript variant 2	NM_001163812.1	NP_001157284.1	101
00000058	10	transcript variant 1	NM_021830.4	NP_068602.2	101
00000059	10	transcript variant 4	NM_001163814.1	NP_001157286.1	101
00000060	10	transcript variant 3	NM_001163813.1	NP_001157285.1	101
00000061	10	transcript variant X1	XR_246100.1	-	101

Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium