Description
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc:24525]
Gene Synonyms
DKFZP564I122, RP11-291L19.3, cblC
Location
Chromosome 1: 45,965,725-45,976,739 forward strand.
GRCh37:CM000663.1
About this gene
This gene has 2 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000401061.4 | MMACHC-001 | 2981 | 282aa | ENSP00000383840.4 | Protein coding | CCDS41324 | Q9Y4U1 | NM_015506.2 | GENCODE basic, |
ENST00000477188.1 | MMACHC-004 | 607 | No protein | - | Processed transcript | - | - | - |