Gene: MMADHC ENSG00000168288

Description

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria [Source:HGNC Symbol;Acc:25221]

Gene Synonyms

C2orf25, CL25022, cblD

Location

GRCh37:CM000664.1

About this gene

This gene has 4 transcripts (splice variants) and is associated with 6 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000428879.1	MMADHC-001	1726	296aa	ENSP00000389060.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2189	Q9H3L0	-	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,
ENST00000422782.2	MMADHC-004	1462	330aa	ENSP00000408331.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8WEC0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000303319.5	MMADHC-006	1436	296aa	ENSP00000301920.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2189	Q9H3L0	NM_015702.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000460311.1	MMADHC-005	324	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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