Hs02056452_cn

• Gene Symbol: DLAT
• Assay Reference Genome Location: Chr.11:112063646 on build GRCh38
• Cytoband: 11q23.1

Target Gene Details

• Entrez Gene ID: 1737
• Gene Name: dihydrolipoamide S-acetyltransferase
• Gene Aliases: DLTA, PDC-E2, PDCE2
• Location: Chr.11:112024814-112064278 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DLAT	NM_001931.4	14	3714	NP_001922.2
	XM_011542647.2	13	3253	XP_011540949.1
	AL832703.1
	BC039084.1	14	3083	AAH39084.1

Target Gene Details

• Entrez Gene ID: 120379
• Gene Name: PIH1 domain containing 2
• Gene Aliases: -
• Location: Chr.11:112052161-112074288 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PIH1D2	XM_017017202.1			XP_016872691.1
	XM_017017203.1			XP_016872692.1
	XM_017017204.1			XP_016872693.1
	XM_017017205.1			XP_016872694.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2745077	Chr.11:111949712 - 112188677 on Build GRCh38	Deletion	SDHD IL18 DIXDC1 TEX12 BCO2 C11orf57 PIH1D2 DLAT TIMM8B

More Information

Additional Information:

For this assay, SNP(s) [rs75608010] 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, Exonic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

acetyltransferase

Gene Ontology Categories:

Process(es)

glucose metabolic process
acetyl-CoA biosynthetic process from pyruvate
pyruvate metabolic process
tricarboxylic acid cycle
regulation of acetyl-CoA biosynthetic process from pyruvate
sleep
glyoxylate metabolic process

Function(s)

dihydrolipoyllysine-residue acetyltransferase activity
protein binding
pyruvate dehydrogenase (NAD+) activity
Ral GTPase binding