Gene: MMAB ENSG00000139428

Description

methylmalonic aciduria (cobalamin deficiency) cblB type [Source:HGNC Symbol;Acc:19331]

Gene Synonyms

ATR, cblB, cob

Location

Chromosome 12: 109,991,542-110,011,679 reverse strand.

GRCh37:CM000674.1

About this gene

This gene has 11 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000545712.2	MMAB-001	4438	250aa	ENSP00000445920.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9131	F5H4Z7 Q96EY8	NM_052845.3	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,
ENST00000266839.5	MMAB-201	1174	159aa	ENSP00000266839.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KN55	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000540016.1	MMAB-003	945	198aa	ENSP00000474582.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		S4R3P5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541763.2	MMAB-005	1252	173aa	ENSP00000474981.1	Nonsense mediated decay		F5H4Z7	-	-
ENST00000537496.1	MMAB-004	1188	173aa	ENSP00000444793.1	Nonsense mediated decay		F5H4Z7	-	-
ENST00000544051.1	MMAB-002	1089	47aa	ENSP00000438079.1	Nonsense mediated decay		F5H0C1	-	-
ENST00000420167.2	MMAB-007	561	97aa	ENSP00000416136.2	Nonsense mediated decay		F5H079	-	-
ENST00000503497.3	MMAB-008	546	148aa	ENSP00000474881.1	Nonsense mediated decay		S4R3Z1	-	-
ENST00000537236.1	MMAB-006	658	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000536760.1	MMAB-009	650	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000542390.1	MMAB-010	544	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

EMBL-EBI User Survey 2024

Gene: MMAB ENSG00000139428

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Gene: MMAB ENSG00000139428

Summary