Hs03622523_cn

• Gene Symbol: ISPD
• Assay Reference Genome Location: Chr.7:16241827 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 16

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_017012575.1			XP_016868064.1
	XM_017012577.1			XP_016868066.1
	XM_017012578.1			XP_016868067.1
	BE092109.1
	DY654823.1

Target Gene Details

• Entrez Gene ID: 100506025
• Gene Name: ISPD antisense RNA 1
• Gene Aliases: -
• Location: Chr.7:16210486-16270604 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ISPD-AS1	NR_038946.1
	NR_038947.1
	BX115602.1
	DB462496.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv6289n100	Chr.7:16230707 - 17452994 on Build GRCh38	Gain	AGR3 LRRC72 BZW2 ISPD SOSTDC1 AGR2 AHR TSPAN13 ANKMY2 KCCAT333 ISPD-AS1 LOC105375172
esv2759514	Chr.7:16196537 - 16487765 on Build GRCh38	Loss	ISPD SOSTDC1 ISPD-AS1
nsv470133	Chr.7:16230007 - 16272431 on Build GRCh38	Loss	ISPD ISPD-AS1
esv34298	Chr.7:16212129 - 16284560 on Build GRCh38	Loss	ISPD ISPD-AS1
esv2659119	Chr.7:16207976 - 16291337 on Build GRCh38	Deletion	ISPD ISPD-AS1
esv3612387	Chr.7:16208042 - 16291349 on Build GRCh38	Loss	ISPD ISPD-AS1
nsv1022814	Chr.7:16222675 - 16300363 on Build GRCh38	Loss	ISPD ISPD-AS1

More Information

Additional Information:

For this assay, SNP(s) [rs79828425] 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