Hs04579744_cn

• Gene Symbol: MLPH
• Assay Reference Genome Location: Chr.2:237490571 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MLPH	NM_001042467.2			NP_001035932.1
	NM_001281473.1			NP_001268402.1
	NM_001281474.1			NP_001268403.1
	NM_024101.6			NP_077006.1
	NR_104019.1
	XM_006712737.1			XP_006712800.1
	XM_006712739.1			XP_006712802.1
	XM_006712740.1			XP_006712803.1
	XM_017004893.1			XP_016860382.1
	XM_017004894.1			XP_016860383.1
	AK022207.1			BAB13984.1
	AK094168.1
	AK225381.1
	AK292929.1
	AK296745.1
	AK310821.1
	BC001653.2			AAH01653.1
	BC051269.1			AAH51269.1
	BM272410.1
	DC300186.1

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	ASB1 ESPNL ILKAP LRRFIP1 ASB18 LOC105373958 UBE2F-SCLY SCLY COL6A3 LOC101927958 LINC01107 LOC151174 MIR6811 RBM44 LOC105373944 PER2 AGAP1 LOC105373991 MLPH LOC643387 UBE2F RAMP1 HES6 RAB17 ERFE COPS8 GBX2 IQCA1 ACKR3 TRAF3IP1 PRLH KLHL30 LOC93463

More Information

Additional Information:

For this assay, SNP(s) [rs148163100] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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