Description

methylmalonic aciduria (cobalamin deficiency) cblB type [Source:HGNC Symbol;Acc:HGNC:19331]

Synonyms

cblB, CFAP23

Location

Chromosome 12: 109,553,737-109,573,874 reverse strand.

GRCh38:CM000674.2

About this gene

This gene has 10 transcripts (splice variants), 62 orthologues, is a member of 3 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMAB-001ENST000005457124438250aaENSP00000445920
 
Protein coding
CCDS9131Q96EY8 NM_052845
NP_443077
TSL:1GENCODE basicAPPRIS P1
MMAB-006ENST00000537236134297aaENSP00000483818
 
Protein coding
-A0A087X114 -TSL:3GENCODE basic
MMAB-003ENST00000540016945198aaENSP00000474582
 
Protein coding
-S4R3P5 -TSL:3GENCODE basic
MMAB-005ENST000005417631252173aaENSP00000474981
 
Nonsense mediated decay
-F5H4Z7 -TSL:3
MMAB-004ENST000005374961188173aaENSP00000444793
 
Nonsense mediated decay
-F5H4Z7 -TSL:2
MMAB-002ENST00000544051108947aaENSP00000438079
 
Nonsense mediated decay
-F5H0C1 -TSL:3
MMAB-007ENST0000042016756197aaENSP00000416136
 
Nonsense mediated decay
-F5H079 -TSL:4
MMAB-008ENST00000503497546148aaENSP00000474881
 
Nonsense mediated decay
-S4R3Z1 -TSL:5
MMAB-009ENST00000536760650No protein-
 
Retained intron
---TSL:2
MMAB-010ENST00000542390544No protein-
 
Retained intron
---TSL:2

Gene-based displays