Hs03074003_cn

• Gene Symbol: IFT172
• Assay Reference Genome Location: Chr.2:27444450 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: Within Exon 52

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IFT172	NM_015662.2	48	5390	NP_056477.1
	XM_005264254.1	48	5221	XP_005264311.1
	XM_006711986.3	49	5482	XP_006712049.1
	XM_006711987.1	47	5188	XP_006712050.1
	XM_011532757.2	48	5596	XP_011531059.1
	XM_011532759.2	34	3872	XP_011531061.1
	XM_011532760.2	31	3552	XP_011531062.1
	XM_017003790.1	49	5416	XP_016859279.1
	XM_017003791.1	47	5357	XP_016859280.1
	XM_017003793.1	44	4797	XP_016859282.1
	XM_017003794.1	42	4500	XP_016859283.1
	XM_017003795.1	46	5349	XP_016859284.1
	AB033005.1	30	3255	BAA86493.1
	AL110218.1	45	4946	CAB53678.1
	AL117421.1	16	1659	CAB55914.2
	BC008024.1	16	1588	AAH08024.1
	BC047294.1	16	1687	AAH47294.1
	BC137126.1	48	5280

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

More Information

• Set Membership: Intragenic, Exonic, 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