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Symbol report for MLPH

Stable symbol

HGNC data for MLPH

Approved symbol
MLPH
Approved name

melanophilin

Locus type
gene with protein product
HGNC ID
HGNC:29643
Symbol status
Approved
Alias symbols
l1Rk3
l(1)-3Rk
Slac-2a
ln
exophilin-3
SLAC2-A
Alias names
synaptotagmin-like protein homologue lacking C2 domains-a
Chromosomal location
2q37.3
Gene groups
Gene resources for MLPH
Ensembl
ENSG00000115648 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
79083 Curated
UCSC
uc002vwt.5
Alliance of Genome Resources
HGNC:29643
Nucleotide resources for MLPH
MANE Select
NM_024101.7
ENST00000264605.8
INSDC
AY358857 Curated
ENAGenBankDDBJ
RefSeq
NM_024101 Curated
NCBI sequence viewer
Protein resources for MLPH
UniProt/Swiss-Prot
Q9BV36
InterProPDBeReactome
AlphaFold
AF-Q9BV36-F1
Orthologs from selected species for MLPH
Bos taurus
MLPH VGNC:31506 VGNC
Canis familiaris
MLPH VGNC:43265 VGNC
Equus caballus
MLPH VGNC:20213 VGNC
Felis catus
MLPH VGNC:63526 VGNC
Macaca mulatta
MLPH VGNC:99383 VGNC
Mus musculus
Mlph MGI:2176380 Curated
Pan troglodytes
MLPH VGNC:14155 VGNC
Rattus norvegicus
Mlph RGD:1310733
Sus scrofa
MLPH VGNC:96225 VGNC
Clinical resources for MLPH
OMIM
606526
LRG
LRG_83 Curated
LSDB
MLPHbase: Mutation registry for Griscelli syndrome, type 3 (GS3) Curated
GenCC
HGNC:29643
MedlinePlus
Search via MLPH
DECIPHER
Search via MLPH
ClinGen
Search via HGNC:29643
Genetic Testing Registry
Search via NCBI Gene ID 79083
ClinVar
Search via NCBI Gene ID 79083
dbVar
Search via NCBI Gene ID 79083
Orphanet
123279
Other resources for MLPH
AmiGO
Search via Q9BV36
QuickGO
Search via Q9BV36
BioGPS
Search via NCBI Gene ID 79083
GeneCards
Search via HGNC:29643
Monarch
Search via HGNC:29643
WikiGenes
Search via NCBI Gene ID 79083
References for MLPH