Description
methylmalonic aciduria (cobalamin deficiency) cblB type [Source:HGNC Symbol;Acc:19331]
Gene Synonyms
ATR, cblB, cob
Location
Chromosome 12: 109,991,542-110,011,679 reverse strand.
GRCh37:CM000674.1
About this gene
This gene has 11 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000545712.2 | MMAB-001 | 4438 | 250aa | ENSP00000445920.1 | Protein coding | CCDS9131 | F5H4Z7 Q96EY8 | NM_052845.3 | GENCODE basic, |
ENST00000266839.5 | MMAB-201 | 1174 | 159aa | ENSP00000266839.5 | Protein coding | J3KN55 | - | GENCODE basic, | |
ENST00000540016.1 | MMAB-003 | 945 | 198aa | ENSP00000474582.1 | Protein coding | S4R3P5 | - | GENCODE basic, | |
ENST00000541763.2 | MMAB-005 | 1252 | 173aa | ENSP00000474981.1 | Nonsense mediated decay | F5H4Z7 | - | - | |
ENST00000537496.1 | MMAB-004 | 1188 | 173aa | ENSP00000444793.1 | Nonsense mediated decay | F5H4Z7 | - | - | |
ENST00000544051.1 | MMAB-002 | 1089 | 47aa | ENSP00000438079.1 | Nonsense mediated decay | F5H0C1 | - | - | |
ENST00000420167.2 | MMAB-007 | 561 | 97aa | ENSP00000416136.2 | Nonsense mediated decay | F5H079 | - | - | |
ENST00000503497.3 | MMAB-008 | 546 | 148aa | ENSP00000474881.1 | Nonsense mediated decay | S4R3Z1 | - | - | |
ENST00000537236.1 | MMAB-006 | 658 | No protein | - | Retained intron | - | - | - | |
ENST00000536760.1 | MMAB-009 | 650 | No protein | - | Retained intron | - | - | - | |
ENST00000542390.1 | MMAB-010 | 544 | No protein | - | Retained intron | - | - | - |