Name: [Hs01213596_cn] [UQCRC1]
Creator: Thermo Fisher Scientific
Keywords: [UQCRC1] Assay, [ubiquinol-cytochrome c reductase core protein I] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	7384
Gene Name:	ubiquinol-cytochrome c reductase core protein I
Gene Aliases:	D3S3191, QCR1, UQCR1
Location:	Chr.3:48598999-48609665 on Build GRCh38
Assay Gene Location:	Overlaps Intron 11 - Exon 12

Gene Symbol	Transcript Accession	Protein ID
UQCRC1	NM_003365.2	NP_003356.2
	AK129903.1
	AK300694.1
	AK313090.1
	BC009586.1	AAH09586.1
	D26485.1	BAA05495.1
	L16842.1	AAA20046.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv954484	Chr.3:48533268 - 48609567 on Build GRCh38	Deletion	COL7A1 UQCRC1 UCN2 PFKFB4 MIR6823 SNORA94 MIR711
nsv1004383	Chr.3:48506361 - 48612339 on Build GRCh38	Loss	COL7A1 UQCRC1 UCN2 PFKFB4 MIR6823 SNORA94 MIR711
nsv3811	Chr.3:48561747 - 48606376 on Build GRCh38	Deletion	COL7A1 UQCRC1 UCN2 PFKFB4 SNORA94 MIR711
nsv834685	Chr.3:48527576 - 48708341 on Build GRCh38	Loss	COL7A1 NCKIPSD CELSR3 TMEM89 CELSR3-AS1 PFKFB4 MIR4793 MIR6823 SNORA94 SLC26A6 UQCRC1 IP6K2 UCN2 MIR711 MIR6824
nsv523981	Chr.3:48478880 - 48683607 on Build GRCh38	Loss	COL7A1 NCKIPSD CELSR3 TMEM89 CELSR3-AS1 PFKFB4 MIR4793 MIR6823 SNORA94 SLC26A6 SHISA5 UQCRC1 UCN2 MIR711 MIR6824
nsv818138	Chr.3:48573492 - 48694054 on Build GRCh38	Gain	COL7A1 UQCRC1 NCKIPSD CELSR3 TMEM89 IP6K2 CELSR3-AS1 MIR4793 SNORA94 MIR711 SLC26A6 MIR6824
nsv590246	Chr.3:48590581 - 48683607 on Build GRCh38	Loss	COL7A1 UQCRC1 NCKIPSD CELSR3 TMEM89 CELSR3-AS1 MIR4793 SNORA94 SLC26A6 MIR6824