Hs06558225_cn

• Gene Symbol: MTR
• Assay Reference Genome Location: Chr.1:236801952 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MTR	NM_000254.2			NP_000245.2
	NM_001291939.1			NP_001278868.1
	NM_001291940.1			NP_001278869.1
	XM_005273141.4			XP_005273198.1
	XM_011544194.2			XP_011542496.1
	XM_017001329.1			XP_016856818.1
	XM_017001330.1			XP_016856819.1
	AK294270.1
	AK299904.1
	AK307390.1
	BC130616.1
	BC136440.1
	BC144095.1
	BC144097.1
	DC377743.1
	U71285.1			AAC51188.1
	U73338.1			AAB39704.1
	U75743.1			AAB58906.1

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	GPR137B NID1 ACTN2 LGALS8-AS1 EDARADD MT1HL1 HEATR1 MTR LGALS8 ERO1B
nsv5010	Chr.1:236796351 - 236810727 on Build GRCh38	Insertion	MTR
nsv428335	Chr.1:236734659 - 236913672 on Build GRCh38	Gain	ACTN2 MTR

More Information

• Set Membership: Intragenic, Intronic, Non-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