Hs05058708_cn

• Gene Symbol: PTDSS1
• Assay Reference Genome Location: Chr.8:96272202 on build GRCh38
• Cytoband: 8q22.1

Target Gene Details

• Entrez Gene ID: 9791
• Gene Name: phosphatidylserine synthase 1
• Gene Aliases: LMHD, PSS1, PSSA
• Location: Chr.8:96261886-96334552 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTDSS1	NM_001290225.1			NP_001277154.1
	NM_014754.2			NP_055569.1
	AK293036.1
	BC002376.2			AAH02376.2
	BC004192.2			AAH04192.1
	BC004390.1			AAH04390.1
	D14694.1			BAA03520.1
	HY087183.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6319	Chr.8:96271561 - 96303665 on Build GRCh38	Insertion	PTDSS1
nsv1020494	Chr.8:96188447 - 96286981 on Build GRCh38	Gain	MTERF3 UQCRB PTDSS1

More Information

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

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

phosphatidylserine biosynthetic process
phospholipid biosynthetic process

Function(s)

transferase activity