Hs00217710_cn

• Gene Symbol: CFAP126
• Assay Reference Genome Location: Chr.1:161364703 on build GRCh38
• Cytoband: 1q23.3

Target Gene Details

• Entrez Gene ID: 257177
• Gene Name: cilia and flagella associated protein 126
• Gene Aliases: C1orf192, Flattop, Fltp
• Location: Chr.1:161364731-161367883 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFAP126	NM_001013625.3			NP_001013647.2
	BU688150.1

Target Gene Details

• Entrez Gene ID: 6391
• Gene Name: succinate dehydrogenase complex subunit C
• Gene Aliases: CYB560, CYBL, PGL3, QPS1, SDH3
• Location: Chr.1:161314376-161364751 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SDHC	NM_001035511.1			NP_001030588.1
	NM_001035512.1			NP_001030589.1
	NM_001035513.1			NP_001030590.1
	NM_001278172.1			NP_001265101.1
	NM_003001.3			NP_002992.1
	NR_103459.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1010776	Chr.1:161312594 - 161439428 on Build GRCh38	Gain	CFAP126 SDHC

More Information

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

Panther Classification:

Molecular Function -

dehydrogenase

Gene Ontology Categories:

Process(es)

cilium organization
tricarboxylic acid cycle
mitochondrial electron transport, succinate to ubiquinone
aerobic respiration
oxidation-reduction process

Function(s)

succinate dehydrogenase activity
electron carrier activity
heme binding
metal ion binding