Transcript: ENST00000477188.1 MMACHC-004

Description

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc:24525]

Gene Synonyms

DKFZP564I122, RP11-291L19.3, cblC

Location

About this transcript

This transcript has 2 exons, is associated with 637 variant alleles and maps to 207 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000401061.4	MMACHC-001	2981	282aa	ENSP00000383840.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS41324	Q9Y4U1	NM_015506.2	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,
ENST00000477188.1	MMACHC-004	607	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary

Statistics

Exons: 2, Coding exons: 0, Transcript length: 607 bps,

Version

ENST00000477188.1

Type

Processed transcript

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000020867 (version 2)