Hs01676156_cn

• Gene Symbol: SMDT1
• Assay Reference Genome Location: Chr.22:42079952 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 91689
• Gene Name: single-pass membrane protein with aspartate rich tail 1
• Gene Aliases: C22orf32, DDDD, EMRE, dJ186O1.1
• Location: Chr.22:42079687-42084284 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMDT1	NM_033318.4			NP_201575.3
	XM_011530509.2			XP_011528811.1
	AK312142.1
	AL449243.1			CAC15000.1
	BC024237.2			AAH24237.1
	BI754670.1
	CR456453.1			CAG30339.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv508737	Chr.22:42052007 - 42134336 on Build GRCh38	Insertion	SNORD13P1 NDUFA6-AS1 LOC102723722 WBP2NL FAM109B CYP2D6 SMDT1 NDUFA6 NAGA
nsv834210	Chr.22:42057329 - 42209100 on Build GRCh38	Loss	SNORD13P1 NDUFA6-AS1 TCF20 LOC102723722 WBP2NL FAM109B CYP2D6 SMDT1 NDUFA6 CYP2D7 NAGA

More Information

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

Gene Ontology Categories:

Process(es)

mitochondrial calcium ion transport
calcium ion transmembrane import into mitochondrion
mitochondrial calcium ion homeostasis

Function(s)

protein binding