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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: AMPD1 ENSG00000116748

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Description

adenosine monophosphate deaminase 1 [Source:HGNC Symbol;Acc:468]

Gene Synonyms

MAD, MADA, MMDD

Location

Chromosome 1: 115,215,719-115,238,239 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 4 transcripts (splice variants), 2 paralogues and is associated with 1 phenotype.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000520113.2	AMPD1-001	2375	780aa	ENSP00000430075.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS876	P23109 Q6F4B5 Q6F4B6 Q6F4B7 Q6F4B8 Q6F4B9	-	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,
ENST00000369538.3	AMPD1-002	2392	776aa	ENSP00000358551.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS53349	P23109 Q6F4B5 Q6F4B6 Q6F4B7 Q6F4B8 Q6F4B9	NM_001172626.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000353928.6	AMPD1-201	2391	747aa	ENSP00000316520.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P23109 Q6F4B5 Q6F4B6 Q6F4B7 Q6F4B8 Q6F4B9	NM_000036.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000485564.3	AMPD1-003	441	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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