Hs01553317_cn

• Gene Symbol: AFG3L1P
• Assay Reference Genome Location: Chr.16:89978860 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 172
• Gene Name: AFG3 like matrix AAA peptidase subunit 1, pseudogene
• Gene Aliases: AFG3, AFG3L1
• Location: Chr.16:89972580-90000787 on Build GRCh38
• Assay Gene Location: Overlaps Exon 3 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AFG3L1P	NR_003226.1
	NR_003227.1
	NR_003228.1
	AF329691.1
	AF329693.1
	AF329694.1
	AK056488.1
	AK091293.1
	AK097044.1			BAC04933.1
	AK126911.1
	DA707802.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv573842	Chr.16:89964848 - 90038925 on Build GRCh38	Loss	DBNDD1 DEF8 GAS8-AS1 AFG3L1P CENPBD1 GAS8
esv3639603	Chr.16:89944533 - 90039438 on Build GRCh38	Gain	DBNDD1 DEF8 GAS8-AS1 AFG3L1P CENPBD1 GAS8
nsv471120	Chr.16:89977620 - 90063728 on Build GRCh38	Gain	DBNDD1 URAHP GAS8-AS1 AFG3L1P PRDM7 GAS8
esv2762221	Chr.16:89610380 - 90039318 on Build GRCh38	Gain+Loss	SPATA33 CDK10 MC1R DBNDD1 CHMP1A FANCA DEF8 AFG3L1P LOC105371419 GAS8 SPIRE2 TCF25 VPS9D1 DPEP1 LOC107984817 TUBB3 VPS9D1-AS1 ZNF276 GAS8-AS1 SPATA2L CENPBD1
nsv573810	Chr.16:89857498 - 90037251 on Build GRCh38	Loss	MC1R DBNDD1 TUBB3 DEF8 GAS8-AS1 AFG3L1P CENPBD1 GAS8 SPIRE2 TCF25
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	SPG7 SPATA33 CPNE7 MC1R DBNDD1 URAHP LOC101927817 SNORD68 DEF8 LOC105371419 GAS8 TCF25 TUBB3 VPS9D1-AS1 GAS8-AS1 SPATA2L CENPBD1 CDK10 LOC105371414 TUBB8P7 RPL13 CHMP1A ANKRD11 FANCA AFG3L1P SPIRE2 VPS9D1 DPEP1 LOC107984817 ZNF778 LOC100287036 FAM157C ZNF276 PRDM7
nsv573799	Chr.16:89852186 - 90022379 on Build GRCh38	Gain	MC1R DBNDD1 TUBB3 DEF8 AFG3L1P LOC105371419 CENPBD1 GAS8 SPIRE2 TCF25
esv3892941	Chr.16:89941888 - 90002650 on Build GRCh38	Gain	DEF8 AFG3L1P CENPBD1
nsv471119	Chr.16:89957794 - 90083514 on Build GRCh38	Loss	DBNDD1 URAHP DEF8 GAS8-AS1 AFG3L1P CENPBD1 PRDM7 GAS8
nsv1066499	Chr.16:89891957 - 90028891 on Build GRCh38	Loss	MC1R DBNDD1 TUBB3 DEF8 AFG3L1P CENPBD1 GAS8 TCF25
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	SPG7 LOC107987238 MC1R URAHP PABPN1L TCF25 IL17C CDH15 TUBB3 CTU2 VPS9D1-AS1 SLC22A31 CBFA2T3 CDK10 LOC105371414 TUBB8P7 AFG3L1P LOC339059 LOC100289580 SPIRE2 LOC105371409 VPS9D1 DPEP1 LOC100287036 RNF166 ZNF276 LOC101927793 ACSF3 SNAI3-AS1 SPATA33 CPNE7 DBNDD1 GALNS MIR4722 LOC101927817 SNORD68 DEF8 LOC105371419 GAS8 LOC100129697 CDT1 LOC400558 CYBA GAS8-AS1 SPATA2L CENPBD1 RPL13 LINC00304 CHMP1A ANKRD11 FANCA LOC107984817 ZNF778 TRAPPC2L FAM157C SNAI3 PIEZO1 MVD APRT PRDM7

More Information

Additional Information:

For this assay, SNP(s) [rs78517194] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

metalloprotease