Hs04337888_cn

• Gene Symbol: ISPD
• Assay Reference Genome Location: Chr.7:16117791 on build GRCh38
• Cytoband: 7p21.2

Target Gene Details

• Entrez Gene ID: 729920
• Gene Name: isoprenoid synthase domain containing
• Gene Aliases: MDDGA7, MDDGC7, Nip, hCG_1745121
• Location: Chr.7:16087527-16422562 on Build GRCh38
• Assay Gene Location: Within Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ISPD	NM_001101417.3			NP_001094887.1
	NM_001101426.3			NP_001094896.1
	XM_006715770.3			XP_006715833.1
	XM_011515500.2			XP_011513802.1
	XM_011515508.2			XP_011513810.1
	XM_011515509.2			XP_011513811.1
	XM_017012577.1			XP_016868066.1
	XM_017012578.1			XP_016868067.1
	BE092109.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891069	Chr.7:16094088 - 16118136 on Build GRCh38	Loss	ISPD
esv3571669	Chr.7:16110876 - 16190128 on Build GRCh38	Loss	ISPD

More Information

Additional Information:

For this assay, SNP(s) [rs115593417] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

axon guidance
isoprenoid biosynthetic process
protein O-linked mannosylation

Function(s)

2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase activity