Hs03378030_cn

• Gene Symbol: MMEL1
• Assay Reference Genome Location: Chr.1:2593578 on build GRCh38
• Cytoband: 1p36.32

Target Gene Details

• Entrez Gene ID: 79258
• Gene Name: membrane metallo-endopeptidase-like 1
• Gene Aliases: MMEL2, NEP2, NEPII, NL1, NL2, SEP
• Location: Chr.1:2590639-2633042 on Build GRCh38
• Assay Gene Location: Within Intron 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MMEL1	NM_033467.3			NP_258428.2
	XM_011542122.2			XP_011540424.1
	XM_017002310.1			XP_016857799.1
	XM_017002311.1			XP_016857800.1
	XM_017002312.1			XP_016857801.1
	XM_017002313.1			XP_016857802.1
	XM_017002314.1			XP_016857803.1
	XM_017002315.1			XP_016857804.1
	AF336981.1			AAL08942.1
	AK093058.1
	BC101027.2
	BC101028.1
	BC101029.2			AAI01030.1
	BC101030.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv829648	Chr.1:2567689 - 2640901 on Build GRCh38	Loss	MMEL1 LOC100996583 FAM213B TTC34
esv3582248	Chr.1:2569899 - 2636548 on Build GRCh38	Gain	MMEL1 LOC100996583 FAM213B
esv3585029	Chr.1:2593107 - 2596288 on Build GRCh38	Loss	MMEL1
nsv545077	Chr.1:2428542 - 2622185 on Build GRCh38	Gain	MMEL1 LOC100996583 TNFRSF14 FAM213B LOC115110 PLCH2 PANK4 HES5
nsv545082	Chr.1:2536231 - 2597243 on Build GRCh38	Loss	MMEL1 LOC100996583 TNFRSF14 FAM213B LOC115110
nsv470684	Chr.1:2394570 - 2930923 on Build GRCh38	Loss	MMEL1 LOC100996583 TNFRSF14 PEX10 FAM213B LOC115110 PLCH2 RER1 TTC34 PANK4 HES5
nsv545083	Chr.1:2575976 - 2653099 on Build GRCh38	Gain	MMEL1 LOC100996583 FAM213B TTC34
nsv951592	Chr.1:2564862 - 2613961 on Build GRCh38	Deletion	MMEL1 LOC100996583 TNFRSF14 FAM213B

More Information

Additional Information:

For this assay, SNP(s) [rs145511787] 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 -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis

Function(s)

metalloendopeptidase activity
metal ion binding