Gene: NHLRC1 ENSG00000187566

Description

NHL repeat containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:21576]

Gene Synonyms

EPM2A, EPM2B, MALIN, bA204B7.2, malin

Location

GRCh37:CM000668.1

About this gene

This gene has 1 transcript (splice variant) and is associated with 2 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000340650.3	NHLRC1-001	2134	395aa	ENSP00000345464.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4542	Q6VVB1	NM_198586.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

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