Hs00699240_cn

• Gene Symbol: RPL23A
• Assay Reference Genome Location: Chr.17:28724400 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 6147
• Gene Name: ribosomal protein L23a
• Gene Aliases: L23A, MDA20
• Location: Chr.17:28719982-28724356 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPL23A	NM_000984.5			NP_000975.2
	AW044310.1
	BC058041.1			AAH58041.1

Target Gene Details

• Entrez Gene ID: 116238
• Gene Name: TLC domain containing 1
• Gene Aliases: -
• Location: Chr.17:28724348-28727930 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TLCD1	NM_001160407.1			NP_001153879.1
	NM_138463.3			NP_612472.1
	XM_006721671.3			XP_006721734.1
	XM_011524278.2			XP_011522580.1
	BC014072.2			AAH14072.1
	BF478215.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1064087	Chr.17:28462253 - 28755692 on Build GRCh38	Gain	NARR SPAG5-AS1 PIGS SNORD42A SNORD4A RAB34 RPL23A UNC119 ALDOC TLCD1 SNORD4B FOXN1 TRAF4 PROCA1 RPS7P1 NEK8 SLC13A2 SDF2 SNORD42B SGK494 SPAG5 KIAA0100 SUPT6H

More Information

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

Panther Classification:

Molecular Function -

ribosomal protein

Gene Ontology Categories:

Process(es)

ribosomal large subunit assembly
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
rRNA processing
translation
translational initiation
SRP-dependent cotranslational protein targeting to membrane
cell proliferation
viral transcription
cell-cell adhesion

Function(s)

nucleotide binding
structural constituent of ribosome
protein binding
rRNA binding
poly(A) RNA binding
cadherin binding involved in cell-cell adhesion