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Description

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Location
About this transcript

This transcript has 4 exons and is annotated with 2 domains and features.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtFlags
MMACHC-001OTTHUMT00000020864.35296282aaOTTHUMP00000009243
 
Protein coding
CCDS41324Q9Y4U1
MMACHC-002OTTHUMT00000020865.21465No protein-
 
Artifact
--
MMACHC-004OTTHUMT00000020867.2607No protein-
 
Processed transcript
--
Statistics

Exons: 4 Transcript length: 5,296 bps Translation length: 282 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS41324

Class

Known protein coding [Definition]

Author

This transcript was annotated by Havana

Version & date

Version 3, last modified on 27/02/2014 (Created on 12/12/2003)

Alternative symbols

RP11-291L19.3-001

Other assemblies

This transcript maps to 45,500,053-45,513,382 in GRCh38 (Ensembl) coordinates.

Jump to this stable ID in Ensembl

Alternative transcripts
Ensembl transcript having exact match with Havana:
Curation Method

Manual annotation from Havana

Transcript-based displays