Hs03691256_cn

• Gene Symbol: XKR5
• Assay Reference Genome Location: Chr.8:6813812 on build GRCh38
• Cytoband: 8p23.1

Target Gene Details

• Entrez Gene ID: 389610
• Gene Name: XK related 5
• Gene Aliases: HARL2754, UNQ2754, XRG5A, XRG5BM
• Location: Chr.8:6808517-6835644 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
XKR5	NM_001289973.1			NP_001276902.1
	NM_207411.4			NP_997294.3
	XM_011534750.2			XP_011533052.1
	XM_017013401.1			XP_016868890.1
	XM_017013402.1			XP_016868891.1
	AY358489.1			AAQ88853.1
	AY534242.1			AAT07091.1
	AY534243.1			AAT07092.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1021684	Chr.8:6492570 - 6951933 on Build GRCh38	Loss	MIR4659A AGPAT5 MIR4659B DEFA6 MIR8055 MCPH1 ANGPT2 GS1-24F4.2 DEFB1 DEFA4 XKR5 DEFA8P MCPH1-AS1
nsv610004	Chr.8:6544845 - 6915391 on Build GRCh38	Gain	MIR4659A AGPAT5 DEFB1 MIR4659B XKR5 MIR8055 MCPH1 ANGPT2 MCPH1-AS1 GS1-24F4.2
nsv1025976	Chr.8:6615427 - 6829450 on Build GRCh38	Loss	MIR4659A AGPAT5 MIR4659B XKR5 MIR8055 MCPH1 MCPH1-AS1
esv3576520	Chr.8:6794391 - 7186524 on Build GRCh38	Gain	DEFA11P DEFA9P DEFA3 DEFA6 DEFT1P DEFT1P2 DEFA10P DEFA5 GS1-24F4.2 DEFA1B DEFB1 DEFA4 XKR5 DEFA8P DEFA1 DEFA7P
esv2422383	Chr.8:6504868 - 6924071 on Build GRCh38	Duplication	MIR4659A AGPAT5 DEFB1 MIR4659B XKR5 MIR8055 MCPH1 ANGPT2 MCPH1-AS1 GS1-24F4.2
nsv831220	Chr.8:6670324 - 6870969 on Build GRCh38	Gain	MIR4659A AGPAT5 DEFB1 MIR4659B XKR5 MCPH1-AS1 GS1-24F4.2
nsv610006	Chr.8:6710680 - 7063882 on Build GRCh38	Gain	MIR4659A DEFA11P DEFA9P DEFA3 AGPAT5 MIR4659B DEFA6 DEFT1P DEFT1P2 DEFA10P DEFA5 GS1-24F4.2 DEFA1B DEFB1 DEFA4 XKR5 DEFA8P DEFA1 DEFA7P
nsv1031577	Chr.8:6712833 - 8008628 on Build GRCh38	Gain	LOC101928095 USP17L4 AGPAT5 MIR4659B PRR23D2 FAM66B DEFT1P2 USP17L8 DEFB105B DEFA4 DEFB103B LOC107986910 FAM66E ZNF705B DEFB104B DEFA9P DEFB105A USP17L1 XKR5 DEFA8P DEFA1 DEFA3 FAM90A10P DEFA6 DEFB103A DEFB4B DEFB108P1 PRR23D1 SPAG11B SPAG11A DEFA1B OR7E125P DEFB1 LINC00965 ZNF705G DEFB109P1B MIR4659A DEFA11P LOC101929400 DEFT1P DEFB106B DEFA10P DEFB107B DEFA5 GS1-24F4.2 FAM90A7P OR7E154P USP17L3 DEFB107A DEFB106A DEFB4A DEFB104A DEFA7P
nsv465437	Chr.8:6797870 - 6971563 on Build GRCh38	Gain	DEFA9P DEFB1 DEFA4 XKR5 DEFA6 DEFA8P DEFA10P GS1-24F4.2
esv2752262	Chr.8:6781378 - 7153553 on Build GRCh38	Gain	DEFA11P DEFA9P DEFA3 DEFA6 DEFT1P DEFT1P2 DEFA10P DEFA5 GS1-24F4.2 DEFA1B DEFB1 DEFA4 XKR5 DEFA8P DEFA1 DEFA7P

More Information

Additional Information:

For this assay, SNP(s) [rs77945811] 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, Intronic, Non-exonic, DGV Variation