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Gene ENSMUSG00000028690 (Mmachc)
Chromosomal location
Chr 4: 116375040 - 116380926 (-)
Description
methylmalonic aciduria cblC type, with homocystinuria Gene [Source:MGI (curated);Acc:Mmachc-001]
RefSeq_peptide
NP_080238.2 
UniGene
Mm.252785 Mm.413129 
MGI
MGI:1914346 
Uniprot/SWISSPROT
Q9CZD0 
Uniprot/SPTREMBL
A2AGD4 
Human Ortholog
ENSG00000132763 (MMACHC)
Omim 277400 - METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE  603174 - HOMOCYSTEINEMIA  
UniTrap UNI3426
Vector Insertion
Chr 4: 116378681 - 116380842
Public Clones (sanger) AZ0348 (sanger) CSH052 (baygenomics) D138A08 (ggtc) D149F06 (ggtc)
CMHD-GT_388E1-3 (cmhd) PST7488-NR (escells) IST11273F3 (tigm) IST12405H7 (tigm)
IST14050E2 (tigm) IST13353G11 (tigm)
Private Clones OST471193 (lexicon) OST464273 (lexicon) OST413602 (lexicon) OST394087 (lexicon)
OST194761 (lexicon) OST172710 (lexicon) OST172518 (lexicon) OST171862 (lexicon)
OST145910 (lexicon) OST144024 (lexicon) OST125712 (lexicon) OST37104 (lexicon)
Severity of mutation (?) Insertion after 10% of polypeptide chain
Proposed experimental design for vector insertion validation (?)

Show all transcripts and translations:

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