C12orf57 gene homepage

General information
Gene symbol C12orf57
Gene name chromosome 12 open reading frame 57
Chromosome 12
Chromosomal band p13.31
Imprinted Unknown
Genomic reference NC_000012.11
Transcript reference NM_138425.2
Associated with diseases Temtamy syndrome
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 15
Unique public DNA variants reported 10
Individuals with public variants 5
Hidden variants 3
Date created May 03, 2013

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 29521
Entrez Gene 113246
PubMed articles C12orf57
OMIM - Gene 615140
OMIM - Diseases Temtamy syndrome


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00004000 12 chromosome 12 open reading frame 57 NM_138425.2 NP_612434.1 15


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