Gene: ATP7A ENSG00000165240

Description

ATPase, Cu++ transporting, alpha polypeptide [Source:HGNC Symbol;Acc:869]

Gene Synonyms

DSMAX, MC1, MK, MNK, SMAX3

Location

GRCh37:CM000685.1

View alleles of this gene on alternative sequences

About this gene

This gene has 3 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 12 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000341514.6	ATP7A-001	8483	1500aa	ENSP00000345728.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35339	Q04656	NM_000052.5	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,
ENST00000343533.5	ATP7A-201	8254	1422aa	ENSP00000343026.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q04656	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000350425.4	ATP7A-202	5497	503aa	ENSP00000343678.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q04656	-	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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