Hs01171121_cn

• Gene Symbol: BLMH
• Assay Reference Genome Location: Chr.17:30248997 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 642
• Gene Name: bleomycin hydrolase
• Gene Aliases: BH, BMH
• Location: Chr.17:30248195-30292166 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BLMH	NM_000386.3	12	1735	NP_000377.1
	AF091082.1	5	536	AAC72951.1
	AK057600.1	1	1287
	AK223403.1	12	1515	BAD97123.1
	AK301948.1	11	1308
	AK312896.1
	BC003616.2	12	1487	AAH03616.1
	BT007018.1			AAP35664.1
	X92106.1	12	1466	CAA63078.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv2023	Chr.17:30245788 - 30260021 on Build GRCh38	Insertion	BLMH
esv3582599	Chr.17:30248965 - 30255400 on Build GRCh38	Loss	BLMH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

cysteine protease, protease, protein modifying enzyme

Gene Ontology Categories:

Process(es)

protein polyubiquitination
proteolysis
response to toxic substance
response to drug

Function(s)

aminopeptidase activity
carboxypeptidase activity
cysteine-type endopeptidase activity
protein binding
cysteine-type peptidase activity