Hs04642752_cn

• Gene Symbol: MLPH
• Assay Reference Genome Location: Chr.2:237487006 on build GRCh38
• Cytoband: 2q37.3

Target Gene Details

• Entrez Gene ID: 79083
• Gene Name: melanophilin
• Gene Aliases: SLAC2-A
• Location: Chr.2:237486410-237555318 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MLPH	NM_001281474.1			NP_001268403.1
	AK094168.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv584728	Chr.2:237362083 - 237525791 on Build GRCh38	Loss	MIR6811 COL6A3 MLPH
nsv1000252	Chr.2:235899999 - 238766417 on Build GRCh38	Loss	LOC151174 HES6 RAB17 ACKR3 PRLH LRRFIP1 LOC105373991 LOC643387 LINC01107 MLPH SCLY COPS8 MIR6811 LOC105373958 TRAF3IP1 PER2 ASB18 LOC93463 KLHL30 RAMP1 LOC101927958 AGAP1 RBM44 COL6A3 ASB1 ESPNL LOC105373944 GBX2 UBE2F ILKAP UBE2F-SCLY IQCA1 ERFE

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

myelin protein

Gene Ontology Categories:

Process(es)

intracellular protein transport

Function(s)

protein binding
Rab GTPase binding
metal ion binding