Hs06805455_cn

• Gene Symbol: LMBRD1
• Assay Reference Genome Location: Chr.6:69690452 on build GRCh38
• Cytoband: 6q13

Target Gene Details

• Entrez Gene ID: 55788
• Gene Name: LMBR1 domain containing 1
• Gene Aliases: C6orf209, LMBD1, MAHCF, NESI
• Location: Chr.6:69675749-69797157 on Build GRCh38
• Assay Gene Location: Within Intron 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LMBRD1	NM_018368.3			NP_060838.3
	XM_011535941.1			XP_011534243.1
	AF113224.1			AAG39295.1
	AF208863.1			AAF64277.1
	AF211480.1			AAK26247.1
	AK002102.1			BAA92087.1
	AK021916.1	1	436
	AK225187.1
	AK225537.1
	AK290069.1
	AY136817.1			AAN11301.1
	BC010360.1			AAH10360.1
	BC047073.1			AAH47073.1
	BX647737.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv830682	Chr.6:69687959 - 69882991 on Build GRCh38	Loss	COL19A1 LMBRD1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

cobalamin metabolic process
cobalamin transport
viral process
insulin receptor internalization
negative regulation of glucose import
negative regulation of insulin receptor signaling pathway
negative regulation of protein kinase B signaling

Function(s)

insulin receptor binding
cobalamin transporter activity
cobalamin binding