Hs06138900_cn

• Gene Symbol: MTCH1
• Assay Reference Genome Location: Chr.6:36983942 on build GRCh38
• Cytoband: 6p21.2

Target Gene Details

• Entrez Gene ID: 23787
• Gene Name: mitochondrial carrier 1
• Gene Aliases: CGI-64, PIG60, PSAP, SLC25A49
• Location: Chr.6:36968135-36986551 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTCH1	NM_001271641.1			NP_001258570.1
	NM_014341.2			NP_055156.1
	NR_130739.1
	XM_005248978.1			XP_005249035.1
	XM_005248979.1			XP_005249036.1
	XM_011514450.1			XP_011512752.1
	XM_017010642.1			XP_016866131.1
	XM_017010643.1			XP_016866132.1
	AF151822.1			AAD34059.1
	AF176006.3			AAD52644.3
	AF189289.1			AAF07936.1
	AF192559.3			AAF12793.3
	AK022783.1
	AK130842.1
	AK225628.1
	AK303318.1
	AK315067.1
	AY947344.1
	BC000702.2			AAH00702.2
	BC006507.2			AAH06507.1
	BC009962.2			AAH09962.2
	BC040659.1			AAH40659.2
	BC110914.1			AAI10915.1
	BC125056.1
	BC153873.1
	DR005492.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv518386	Chr.6:36974970 - 37069894 on Build GRCh38	Gain	MTCH1 FGD2
nsv5263	Chr.6:36973849 - 37004333 on Build GRCh38	Deletion	MTCH1
nsv602952	Chr.6:36983434 - 37010969 on Build GRCh38	Loss	MTCH1 FGD2
nsv1015689	Chr.6:36550916 - 39052434 on Build GRCh38	Gain	LOC107986531 LOC100505530 FGD2 PIM1 CMTR1 ZFAND3 DNAH8 MTCH1 TMEM217 C6orf89 PI16 MIR4462 MIR3925 CPNE5 PPIL1 GLP1R CCDC167 PANDAR MDGA1 TBC1D22B SRSF3 RAB44 BTBD9 GLO1 LOC100131047 RNF8 CDKN1A

More Information

Additional Information:

For this assay, SNP(s) [rs79531340] 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 -

mitochondrial carrier protein

Gene Ontology Categories:

Process(es)

transport
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
regulation of signal transduction
positive regulation of apoptotic process
neuronal ion channel clustering

Function(s)

protein binding