Hs02147593_cn

• Gene Symbol: AMH
• Assay Reference Genome Location: Chr.19:2251742 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 268
• Gene Name: anti-Mullerian hormone
• Gene Aliases: MIF, MIS
• Location: Chr.19:2249114-2252073 on Build GRCh38
• Assay Gene Location: Within Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AMH	NM_000479.3	5	1687	NP_000470.2
	BC049194.1	5	1490	AAH49194.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv578382	Chr.19:2194897 - 2260362 on Build GRCh38	Loss	MIR4321 AMH DOT1L LOC105372239 JSRP1 SF3A2 PLEKHJ1 MIR6789 MIR1227
dgv6218n54	Chr.19:2221793 - 2336009 on Build GRCh38	Loss	MIR4321 LOC105372239 LINGO3 JSRP1 LSM7 SF3A2 PLEKHJ1 MIR6789 AMH OAZ1 DOT1L C19orf35 SPPL2B MIR1227
nsv578383	Chr.19:2214058 - 2285197 on Build GRCh38	Loss	MIR4321 AMH OAZ1 DOT1L LOC105372239 C19orf35 JSRP1 SF3A2 PLEKHJ1 MIR6789 MIR1227
nsv833707	Chr.19:2187092 - 2372223 on Build GRCh38	Loss	MIR4321 LOC105372239 LINGO3 JSRP1 LSM7 SF3A2 PLEKHJ1 MIR6789 AMH OAZ1 DOT1L C19orf35 SPPL2B MIR1227

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

preantral ovarian follicle growth
urogenital system development
Mullerian duct regression
cell-cell signaling
gonadal mesoderm development
sex determination
sex differentiation
aging
positive regulation of gene expression
response to organic cyclic compound
response to drug
positive regulation of NF-kappaB transcription factor activity
negative regulation of ovarian follicle development

Function(s)

receptor binding
transforming growth factor beta receptor binding
hormone activity
growth factor activity