Hs01168372_cn

• Gene Symbol: IMPDH1
• Assay Reference Genome Location: Chr.7:128409468 on build GRCh38
• Cytoband: 7q32.1

Target Gene Details

• Entrez Gene ID: 3614
• Gene Name: inosine monophosphate dehydrogenase 1
• Gene Aliases: IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608
• Location: Chr.7:128392277-128409988 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMPDH1	NM_000883.3			NP_000874.2
	NM_001102605.1			NP_001096075.1
	NM_001142576.1			NP_001136048.1
	NM_001304521.1			NP_001291450.1
	NM_183243.2			NP_899066.1
	XM_017012168.1			XP_016867657.1
	XM_017012169.1			XP_016867658.1
	XM_017012170.1			XP_016867659.1
	XM_017012171.1			XP_016867660.1
	XM_017012172.1			XP_016867661.1
	XM_017012173.1			XP_016867662.1
	AK054667.1
	AK092452.1
	AK122994.1
	AK131294.1			BAD18464.1
	BC033622.1			AAH33622.2
	BX406207.2
	CD014008.1
	CD014010.1
	DA566139.1
	DA980797.1
	DC326380.1
	J05272.1			AAA36114.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv515737	Chr.7:128403981 - 128410363 on Build GRCh38	Loss	IMPDH1
nsv831124	Chr.7:128330292 - 128507856 on Build GRCh38	Gain+Loss	METTL2B IMPDH1 RBM28 HILPDA PRRT4
esv2493565	Chr.7:128345641 - 128413323 on Build GRCh38	Deletion	IMPDH1 PRRT4

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

GMP biosynthetic process
purine ribonucleoside monophosphate biosynthetic process
response to cold
lymphocyte proliferation
oxidation-reduction process
retina development in camera-type eye

Function(s)

nucleotide binding
nucleic acid binding
DNA binding
RNA binding
IMP dehydrogenase activity
metal ion binding