Hs02430948_cn

• Gene Symbol: IFT172
• Assay Reference Genome Location: Chr.2:27445312 on build GRCh38
• Cytoband: 2p23.3

Target Gene Details

• Entrez Gene ID: 26160
• Gene Name: intraflagellar transport 172
• Gene Aliases: BBS20, NPHP17, RP71, SLB, SRTD10, osm-1, wim
• Location: Chr.2:27444373-27489819 on Build GRCh38
• Assay Gene Location: Overlaps Intron 50 - Exon 50

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IFT172	NM_015662.2			NP_056477.1
	XM_005264254.1			XP_005264311.1
	XM_006711986.3			XP_006712049.1
	XM_006711987.1			XP_006712050.1
	XM_011532757.2			XP_011531059.1
	XM_011532759.2			XP_011531061.1
	XM_011532760.2			XP_011531062.1
	XM_017003790.1			XP_016859279.1
	XM_017003791.1			XP_016859280.1
	XM_017003793.1			XP_016859282.1
	XM_017003794.1			XP_016859283.1
	XM_017003795.1			XP_016859284.1
	AB033005.1			BAA86493.1
	AL110218.1			CAB53678.1
	AL117421.1			CAB55914.2
	BC008024.1			AAH08024.1
	BC047294.1			AAH47294.1
	BC137126.1

Target Gene Details

• Entrez Gene ID: 200634
• Gene Name: keratinocyte associated protein 3
• Gene Aliases: KCP3
• Location: Chr.2:27442366-27446481 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KRTCAP3	NM_001168364.1			NP_001161836.1
	BM794111.1
	CB160871.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833614	Chr.2:27263559 - 27452213 on Build GRCh38	Gain	NRBP1 SNX17 GTF3C2 SLC30A3 MPV17 LOC105374363 GTF3C2-AS1 PPM1G IFT172 EIF2B4 ZNF513 DNAJC5G KRTCAP3 UCN TRIM54 FTH1P3
nsv817684	Chr.2:27434300 - 27623736 on Build GRCh38	Gain	ZNF512 NRBP1 GCKR IFT172 C2orf16 KRTCAP3 FNDC4
nsv581244	Chr.2:27335385 - 27480628 on Build GRCh38	Loss	NRBP1 GTF3C2-AS1 SNX17 PPM1G GTF3C2 IFT172 EIF2B4 ZNF513 KRTCAP3 LOC105374363 FTH1P3

More Information

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

Panther Classification:

Molecular Function -

structural protein

Gene Ontology Categories:

Process(es)

neural tube closure
heart looping
Notch signaling pathway
smoothened signaling pathway
brain development
epidermis development
dorsal/ventral pattern formation
protein processing
spinal cord motor neuron differentiation
cytoplasmic microtubule organization
cilium assembly
positive regulation of smoothened signaling pathway
negative regulation of epithelial cell proliferation
palate development
limb development
bone development
hindgut development
left/right axis specification