Transcript: ENST00000520113.2 AMPD1-001

Description

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

Gene Synonyms

MAD, MADA, MMDD

Location

Chromosome 1: 115,215,719-115,238,207 reverse strand.

About this transcript

This transcript has 16 exons, is annotated with 9 domains and features, is associated with 10413 variant alleles and maps to 501 oligo probes.

Gene

This transcript is a product of gene ENSG00000116748.15 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		-	-	-

Summary

Statistics

Exons: 16, Coding exons: 16, Transcript length: 2,375 bps, Translation length: 780 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P23109

CCDS

This transcript is a member of the Human CCDS set: CCDS876

Version

ENST00000520113.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Stop codons

This transcript has a variant, rs17602729, that causes a stop codon to be gained in at least 10% of HapMap or 1000 Genome population(s) CSHL-HAPMAP:HapMap-CEU, ESP6500:European_American.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000032860 (version 4)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000520113.2 AMPD1-001

Summary