Hs05721837_cn

• Gene Symbol: MTR
• Assay Reference Genome Location: Chr.1:236794965 on build GRCh38
• Cytoband: 1q43

Target Gene Details

• Entrez Gene ID: 4548
• Gene Name: 5-methyltetrahydrofolate-homocysteine methyltransferase
• Gene Aliases: HMAG, MS, cblG
• Location: Chr.1:236794304-236903981 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTR	XM_011544194.2	1	662	XP_011542496.1
	XM_017001329.1	1	662	XP_016856818.1
	XM_017001330.1	1	662	XP_016856819.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1005877	Chr.1:235912335 - 237038508 on Build GRCh38	Gain	MT1HL1 ERO1B ACTN2 GPR137B HEATR1 LGALS8 EDARADD MTR LGALS8-AS1 NID1
nsv428335	Chr.1:236734659 - 236913672 on Build GRCh38	Gain	ACTN2 MTR

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

sulfur amino acid metabolic process
nervous system development
methionine biosynthetic process
cobalamin metabolic process
axon regeneration
methylation
pteridine-containing compound metabolic process
response to axon injury
cellular response to nitric oxide

Function(s)

protein binding
zinc ion binding
methionine synthase activity
S-adenosylmethionine-homocysteine S-methyltransferase activity
cobalamin binding