Hs01165918_cn

• Gene Symbol: ILVBL
• Assay Reference Genome Location: Chr.19:15115063 on build GRCh38
• Cytoband: 19p13.12

Target Gene Details

• Entrez Gene ID: 10994
• Gene Name: ilvB acetolactate synthase like
• Gene Aliases: 209L8, AHAS, HACL1L, ILV2H
• Location: Chr.19:15114974-15125799 on Build GRCh38
• Assay Gene Location: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ILVBL	NM_006844.4	16	2242	NP_006835.2
	XM_005259717.4	16	2389	XP_005259774.1
	XM_011527651.2	15	2221	XP_011525953.1
	AB209065.1	10	4169	BAD92302.1
	BC000109.1	5	864	AAH00109.1
	BC011722.2	16	2209	AAH11722.1
	BC011761.2	16	2135	AAH11761.1
	BM676342.1	1	106
	U61263.1	16	2117	AAC50934.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9668	Chr.19:15101800 - 15131511 on Build GRCh38	Gain	ILVBL SYDE1
esv34154	Chr.19:15101623 - 15284812 on Build GRCh38	Loss	EPHX3 BRD4 MIR6795 ILVBL NOTCH3 SYDE1
esv2758746	Chr.19:14986138 - 15148368 on Build GRCh38	Gain	SLC1A6 ILVBL CASP14 OR1I1 CCDC105 SYDE1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ligase

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

magnesium ion binding
molecular_function
protein binding
transferase activity
thiamine pyrophosphate binding