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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: MMAA ENSG00000151611

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Description

methylmalonic aciduria (cobalamin deficiency) cblA type [Source:HGNC Symbol;Acc:18871]

Gene Synonyms

cblA

Location

Chromosome 4: 146,539,415-146,581,187 forward strand.

GRCh37:CM000666.1

About this gene

This gene has 5 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
ENST00000281317.5	MMAA-001	7068	418aa	ENSP00000281317.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3766	Q495G6 Q8IVH4	NM_172250.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541599.1	MMAA-201	1352	137aa	ENSP00000442284.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q495G6	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000511969.1	MMAA-002	1352	260aa	ENSP00000427422.1	Nonsense mediated decay		D6RIS5	-	-
ENST00000506919.1	MMAA-004	1687	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000503730.1	MMAA-005	727	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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