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Symbol report for MMADHC

Stable symbol

HGNC data for MMADHC

Approved symbol
MMADHC
Approved name

metabolism of cobalamin associated D

Locus type
gene with protein product
HGNC ID
HGNC:25221
Symbol status
Approved
Previous symbols
C2orf25
Previous names
chromosome 2 open reading frame 25
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
methylmalonic aciduria and homocystinuria, cblD type
Alias symbols
CL25022
cblD
Chromosomal location
2q23.2
Gene resources for MMADHC
Ensembl
ENSG00000168288 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
27249 Curated
UCSC
uc002txc.4
Alliance of Genome Resources
HGNC:25221
Nucleotide resources for MMADHC
MANE Select
NM_015702.3
ENST00000303319.10
INSDC
BC023995 Curated
ENAGenBankDDBJ
RefSeq
NM_015702 Curated
NCBI sequence viewer
CCDS
CCDS2189 Curated
Protein resources for MMADHC
UniProt/Swiss-Prot
Q9H3L0
InterProPDBeReactome
AlphaFold
AF-Q9H3L0-F1
Orthologs from selected species for MMADHC
Bos taurus
MMADHC VGNC:31511 VGNC
Canis familiaris
MMADHC VGNC:103692 VGNC
Equus caballus
MMADHC VGNC:20217 VGNC
Felis catus
MMADHC VGNC:63534 VGNC
Macaca mulatta
MMADHC VGNC:74825 VGNC
Mus musculus
Mmadhc MGI:1923786 Curated
Pan troglodytes
MMADHC VGNC:6369 VGNC
Rattus norvegicus
Mmadhc RGD:1303272
Sus scrofa
MMADHC VGNC:96071 VGNC
Clinical resources for MMADHC
OMIM
611935
LSDB
MMADHC database at LOVD-China Curated
GenCC
HGNC:25221
MedlinePlus
Search via MMADHC
DECIPHER
Search via MMADHC
ClinGen
Search via HGNC:25221
Genetic Testing Registry
Search via NCBI Gene ID 27249
ClinVar
Search via NCBI Gene ID 27249
dbVar
Search via NCBI Gene ID 27249
Orphanet
171059
Other resources for MMADHC
AmiGO
Search via Q9H3L0
QuickGO
Search via Q9H3L0
BioGPS
Search via NCBI Gene ID 27249
GeneCards
Search via HGNC:25221
Monarch
Search via HGNC:25221
WikiGenes
Search via NCBI Gene ID 27249
References for MMADHC