Description

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

Synonyms

cblC, DKFZP564I122

Location

Chromosome 1: 45,500,053-45,513,382 forward strand.

GRCh38:CM000663.2

About this gene

This gene has 3 transcripts (splice variants), 83 orthologues, is a member of 1 Ensembl protein family and is associated with 28 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
MMACHC-201ENST00000401061.85296282aaENSP00000383840
 
Protein coding
CCDS41324Q9Y4U1 NM_015506
NP_056321
TSL:2GENCODE basicAPPRIS P1
MMACHC-203ENST00000616135.11510225aaENSP00000478859
 
Protein coding
CCDS81315A0A0C4DGU2 NM_001330540
NP_001317469
TSL:2GENCODE basic
MMACHC-202ENST00000477188.1607No protein-
 
Processed transcript
---TSL:3

Gene-based displays