Hs04033609_cn

• Gene Symbol: TUBB4A
• Assay Reference Genome Location: Chr.19:6502839 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 10382
• Gene Name: tubulin beta 4A class IVa
• Gene Aliases: DYT4, TUBB4, beta-5
• Location: Chr.19:6494319-6502848 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TUBB4A	NM_001289123.1			NP_001276052.1
	NM_001289127.1			NP_001276056.1
	NM_001289129.1			NP_001276058.1
	DC303150.1
	DC353527.1
	DC354036.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv962996	Chr.19:6495818 - 6502811 on Build GRCh38	Duplication	TUBB4A
nsv833727	Chr.19:6400101 - 6568241 on Build GRCh38	Loss	SLC25A41 TUBB4A SLC25A23 MIR3940 CRB3 DENND1C TNFSF9 LOC390877 KHSRP
nsv833728	Chr.19:6499789 - 6675421 on Build GRCh38	Loss	TNFSF14 TUBB4A TNFSF9 CD70

More Information

Additional Information:

For this assay, SNP(s) [rs117101346] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

tubulin

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
cytoskeleton organization
microtubule-based process

Function(s)

GTPase activity
structural constituent of cytoskeleton
protein binding
GTP binding