Hs00946647_cn

• Gene Symbol: MRPL27
• Assay Reference Genome Location: Chr.17:50368303 on build GRCh38
• Cytoband: 17q21.33

Target Gene Details

• Entrez Gene ID: 51264
• Gene Name: mitochondrial ribosomal protein L27
• Gene Aliases: L27mt
• Location: Chr.17:50367867-50373201 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MRPL27	NM_016504.2			NP_057588.1
	AB049647.1			BAB40852.1
	AF151084.1			AAF36170.1
	AK023576.1	3	1981
	AK315758.1
	BC001066.2			AAH01066.1
	BC021986.1			AAH21986.1
	BG829493.1
	BM840463.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833475	Chr.17:50219520 - 50388833 on Build GRCh38	Loss	TMEM92-AS1 MRPL27 XYLT2 TMEM92 LRRC59 EME1
nsv519530	Chr.17:50356597 - 50373175 on Build GRCh38	Loss	MRPL27 XYLT2
nsv833476	Chr.17:50316997 - 50473985 on Build GRCh38	Loss	MRPL27 XYLT2 LRRC59 ACSF2 CHAD EME1

More Information

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

Panther Classification:

Molecular Function -

ribosomal protein

Gene Ontology Categories:

Process(es)

translation
mitochondrial translational elongation
mitochondrial translational termination

Function(s)

structural constituent of ribosome
protein binding
poly(A) RNA binding