Description

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

Synonyms

C2orf25, cblD, CL25022

About this transcript

This transcript has 8 exons, is annotated with 3 domains and features, is associated with 97 variations and maps to 27 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMADHC-001ENST000004288791726296aaENSP00000389060
 
Protein coding
CCDS2189Q9H3L0 -TSL:2GENCODE basicAPPRIS P1
MMADHC-006ENST000003033191436296aaENSP00000301920
 
Protein coding
CCDS2189Q9H3L0 NM_015702
NP_056517
TSL:1GENCODE basicAPPRIS P1
MMADHC-004ENST000004227821462330aaENSP00000408331
 
Protein coding
-F8WEC0 -TSL:5GENCODE basic
MMADHC-005ENST00000460311324No protein-
 
Processed transcript
---TSL:2

Protein domains for ENSP00000301920.5

Transcript-based displays