Description
methylmalonic aciduria (cobalamin deficiency) cblB type
Synonyms
cblB, CFAP23
Location
Chromosome 12: 109,553,737-109,573,874 reverse strand.
VEGA68:CM000674.2
About this gene
This gene has 10 transcripts (splice variants) and 1 orthologue.
Transcripts
Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
---|---|---|---|---|---|---|---|---|
MMAB-001 | OTTHUMT00000403128.2 | 4438 | 250aa | OTTHUMP00000240563 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS9131 | Q96EY8 | |
MMAB-006 | OTTHUMT00000403137.2 | 1342 | 97aa | OTTHUMP00000275178 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
MMAB-003 | OTTHUMT00000403129.2 | 945 | 198aa | OTTHUMP00000272854 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
MMAB-005 | OTTHUMT00000403132.2 | 1252 | 173aa | OTTHUMP00000272855 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
MMAB-004 | OTTHUMT00000403130.1 | 1188 | 173aa | OTTHUMP00000240564 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
MMAB-002 | OTTHUMT00000403131.1 | 1089 | 47aa | OTTHUMP00000240565 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
MMAB-007 | OTTHUMT00000403134.1 | 561 | 97aa | OTTHUMP00000240567 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
MMAB-008 | OTTHUMT00000403136.3 | 546 | 148aa | OTTHUMP00000272856 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
MMAB-009 | OTTHUMT00000403135.1 | 650 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
MMAB-010 | OTTHUMT00000403133.2 | 544 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |