methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:NCBI gene (formerly Entrezgene);Acc:424597]
CblC
Primary_assembly 8: 21,489,827-21,495,842 forward strand.
This transcript has 4 exons, is annotated with 4 domains and features, is associated with 729 variant alleles and maps to 14 oligo probes.
This transcript is a product of gene ENSGALG00000010234.3 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | UniProt Match | Flags |
---|---|---|---|---|---|---|---|
ENSGALT00000016635.3 | MMACHC-201 | 3163 | 282aa | ENSGALP00000016616.2 | Protein coding | F1N9P2 | - |