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

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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	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		-	-	-

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Gene: MMAB ENSG00000139428

Summary