Hs06454965_cn

• Gene Symbol: MYL12B
• Assay Reference Genome Location: Chr.18:3268334 on build GRCh38
• Cytoband: 18p11.31

Target Gene Details

• Entrez Gene ID: 103910
• Gene Name: myosin light chain 12B
• Gene Aliases: MLC-B, MRLC2
• Location: Chr.18:3262113-3278284 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MYL12B	NM_001144944.1			NP_001138416.1
	NM_001144945.1			NP_001138417.1
	NM_033546.3			NP_291024.1
	AK291726.1
	AV714583.1
	AY320408.1			AAP73808.1
	BC004994.1			AAH04994.1
	BG696903.1
	BG703257.1
	CN302451.1
	D50372.1			BAA23323.1
	D82058.1			BAB88918.1
	U26162.1			AAA67367.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3641586	Chr.18:3206430 - 3282328 on Build GRCh38	Gain	MYOM1 LOC101927044 LOC104968399 MYL12B MYL12A
esv3641585	Chr.18:3200019 - 3415247 on Build GRCh38	Gain	MYOM1 LOC101927044 TGIF1 LOC104968399 MYL12B MYL12A
nsv1062247	Chr.18:2887767 - 3394669 on Build GRCh38	Gain	LPIN2 MYOM1 LOC101927044 LOC104968399 LOC727896 MYL12B EMILIN2 MYL12A

More Information

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

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

muscle contraction
regulation of cell shape

Function(s)

calcium ion binding
protein binding
myosin heavy chain binding