Hs03349588_cn

• Gene Symbol: LOC105378949
• Assay Reference Genome Location: Chr.1:1891962 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 105378949
• Gene Name: collagen alpha-2(VIII) chain-like
• Gene Aliases: -
• Location: Chr.1:1891057-1892722 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC105378949	XM_017003073.1	2	390	XP_016858562.1
	XM_017003074.1			XP_016858563.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834335	Chr.1:1813471 - 2001966 on Build GRCh38	Loss	CALML6 GNB1 LOC105378949 CFAP74 TMEM52
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	TTLL10-AS1 CALML6 LOC102725121 MXRA8 FAM132A CCNL2 AGRN PERM1 MTND2P28 MIR6859-1 LOC107985729 AURKAIP1 LOC729737 MIR200A LOC101928626 TAS1R3 SSU72 TTLL10 LOC100288175 PLEKHN1 CPTP VWA1 WASH7P RNF223 SDF4 LINC01342 LOC100134822 LOC100132287 FAM87B SKI MIR6859-2 LOC100288069 DDX11L1 DVL1 LOC105378592 FNDC10 MIR6808 OR4F29 TMEM52 MIB2 MIR200B ATAD3C MIR6723 SLC35E2B LOC105378948 CDK11A MIR6727 CDK11B TNFRSF4 GNB1 OR4F5 SCNN1D PRKCZ OR4F16 GABRD MIR429 LOC100129534 LOC100133331 ACAP3 KLHL17 SLC35E2 FAAP20 PUSL1 FAM138A TMEM88B LINC01128 NOC2L MRPL20 MIR6726 ATAD3A LOC105378949 LOC148413 MIR1302-2 LOC107984841 MORN1 LOC102724312 ISG15 B3GALT6 LOC284600 LOC107985728 LOC105378589 LOC100130417 C1orf159 UBE2J2 ANKRD65 FAM41C TNFRSF18 LOC105378591 MMP23B LINC00115 SAMD11 MMP23A LOC105378947 HES4 TMEM240 MTND1P23 LOC100287934 CFAP74 CPSF3L LOC100506504 ATAD3B NADK
nsv1160926	Chr.1:1772699 - 1905488 on Build GRCh38	Duplication	GNB1 LOC105378949 NADK
nsv1118095	Chr.1:1889461 - 1891961 on Build GRCh38	Deletion	GNB1 LOC105378949
nsv951400	Chr.1:1889362 - 1943761 on Build GRCh38	Deletion	CALML6 GNB1 LOC105378949 CFAP74 TMEM52
esv2758913	Chr.1:1389149 - 2092899 on Build GRCh38	Gain+Loss	CALML6 LOC105378589 GABRD CCNL2 FNDC10 SLC35E2 ANKRD65 TMEM52 TMEM88B LOC107985729 MIB2 LOC105378591 MRPL20 ATAD3C ATAD3A LOC105378949 MMP23B SLC35E2B LOC148413 MMP23A CDK11A LOC102724312 TMEM240 SSU72 CDK11B CFAP74 GNB1 VWA1 ATAD3B PRKCZ NADK

More Information

Additional Information:

For this assay, SNP(s) [rs75718362] 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, Exonic, DGV Variation