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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
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,
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	-	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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