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See other C2 CNV Assays ›
Gene Symbol
C2
Assay Reference Genome
Location

Chr.6:31906594 on build GRCh38
Cytoband
6p21.33
Assay ID Hs03601488_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 717

Gene Name:

 complement component 2

Gene Aliases:

 ARMD14, CO2

Location:

 Chr.6:31897785-31945674 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C2 NM_001178063.2 NP_001171534.1
NM_001282457.1 NP_001269386.1
AK096258.1
AK298311.1
AK298808.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv601960 Chr.6:31870664 - 31939370 on Build GRCh38 Loss SLC44A4 ZBTB12 EHMT2 C2-AS1 C2
nsv823505 Chr.6:31903462 - 31907392 on Build GRCh38 Loss C2
nsv601965 Chr.6:31903977 - 31907478 on Build GRCh38 Loss C2
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion SLC39A7 TNXB DDAH2 LOC101929163 C6orf10 MIR1236 MIR219A1 MIR6833 C6orf47 VWA7 C4B HLA-DPA1 MIR4646 LTB MIR6832 CUTA HCP5 ATP6V1G2-DDX39B HCG23 MIR3135B ZBTB12 RNF5 BAG6 LY6G6D HLA-DPB1 HSD17B8 HSPA1B BRD2 NEU1 LY6G5C C4A PSMB8-AS1 ZBTB22 AGPAT1 HCG26 SNORA38 PSMB9 CFB LY6G6E SNORD48 PRRC2A CLIC1 EHMT2 HLA-DRA LSM2 DDX39B-AS1 RING1 HSPA1A PFDN6 HCG25 DAXX NELFE FKBPL HLA-DMA GPSM3 PSMB8 HSPA1L PRRT1 SNORD52 SNORD117 LOC100287329 SYNGAP1 MIR6873 HLA-DOB HLA-DQB2 LY6G6F LST1 B3GALT4 TNF LY6G6C LOC102725068 TAPBP CYP21A1P PPT2 LTA AGER MICB NOTCH4 DDX39B PBX2 GPANK1 MCCD1 MSH5 HLA-DRB5 HLA-DQB1-AS1 C6orf25 CSNK2B MIR6721 C2-AS1 ATP6V1G2 AIF1 WDR46 SLC44A4 NCR3 RXRB HLA-DMB PPT2-EGFL8 APOM SAPCD1 HLA-DOA HLA-DRB1 KIFC1 LOC100507547 RGL2 COL11A2 LOC100294145 CYP21A2 C6orf48 HLA-DQA1 C2 MIR5004 TAP2 SKIV2L VARS HLA-DRB6 MSH5-SAPCD1 PPP1R2P1 NFKBIL1 BTNL2 TAP1 MIR6834 ZBTB9 HCG24 VPS52 EGFL8 DXO SNORD84 STK19 TNXA LY6G5B ABHD16A HLA-DQB1 HLA-DPB2 PHF1 HLA-DQA2 ATF6B RPS18 SAPCD1-AS1
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss TNXB AGER DDAH2 LOC101929163 C6orf10 MICB NOTCH4 DDX39B PBX2 MIR1236 GPANK1 MIR6833 MCCD1 MSH5 C6orf47 VWA7 C6orf25 C4B MIR4646 LTB CSNK2B MIR6832 MIR6721 HCP5 C2-AS1 ATP6V1G2 AIF1 ATP6V1G2-DDX39B HCG23 SLC44A4 NCR3 ZBTB12 HLA-B RNF5 BAG6 LY6G6D PPT2-EGFL8 HSPA1B APOM NEU1 LY6G5C C4A SAPCD1 LOC100507547 CYP21A2 C6orf48 AGPAT1 HCG26 SNORA38 C2 CFB LY6G6E SNORD48 PRRC2A CLIC1 EHMT2 SKIV2L VARS HLA-DRA LSM2 DDX39B-AS1 MSH5-SAPCD1 NFKBIL1 BTNL2 MICA HSPA1A NELFE FKBPL EGFL8 GPSM3 DXO SNORD84 HSPA1L PRRT1 STK19 SNORD52 TNXA SNORD117 LY6G5B LOC100287329 ABHD16A MIR6891 LY6G6F LST1 ATF6B TNF LY6G6C LOC102725068 CYP21A1P SAPCD1-AS1 PPT2 LTA
esv3567540 Chr.6:31903367 - 31911043 on Build GRCh38 Deletion C2
esv3608572 Chr.6:31903347 - 31910697 on Build GRCh38 Loss C2
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss TNXB AGER LOC101929163 C6orf10 NOTCH4 PBX2 MIR1236 MIR6833 HLA-DRB5 HLA-DQB1-AS1 C4B MIR6721 C2-AS1 HCG23 SLC44A4 ZBTB12 RNF5 PPT2-EGFL8 HSPA1B NEU1 C4A HLA-DRB1 LOC100507547 CYP21A2 C6orf48 AGPAT1 HLA-DQA1 C2 CFB SNORD48 EHMT2 SKIV2L HLA-DRA HLA-DRB6 BTNL2 HSPA1A NELFE FKBPL EGFL8 GPSM3 DXO PRRT1 STK19 SNORD52 TNXA HLA-DQB1 ATF6B CYP21A1P PPT2
esv2759415 Chr.6:31903735 - 32241336 on Build GRCh38 Gain+Loss TNXB AGER SKIV2L NOTCH4 PBX2 MIR1236 MIR6833 C4B MIR6721 C2-AS1 NELFE FKBPL EGFL8 GPSM3 RNF5 DXO PRRT1 STK19 PPT2-EGFL8 TNXA C4A LOC100507547 CYP21A2 ATF6B AGPAT1 C2 CYP21A1P PPT2 CFB
esv2731824 Chr.6:31903427 - 31911207 on Build GRCh38 Deletion C2
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion TNXB AGER DDAH2 LOC101929163 C6orf10 MICB NOTCH4 DDX39B PBX2 MIR1236 GPANK1 MIR6833 MCCD1 MSH5 C6orf47 VWA7 HLA-DRB5 C6orf25 C4B MIR4646 LTB CSNK2B MIR6832 MIR6721 HCP5 C2-AS1 ATP6V1G2 AIF1 ATP6V1G2-DDX39B HCG23 SLC44A4 NCR3 ZBTB12 RNF5 BAG6 LY6G6D PPT2-EGFL8 HSPA1B APOM NEU1 LY6G5C C4A SAPCD1 HLA-DRB1 LOC100507547 CYP21A2 C6orf48 AGPAT1 HCG26 SNORA38 C2 CFB LY6G6E SNORD48 PRRC2A CLIC1 EHMT2 SKIV2L VARS HLA-DRA LSM2 HLA-DRB6 DDX39B-AS1 MSH5-SAPCD1 NFKBIL1 BTNL2 HSPA1A NELFE FKBPL EGFL8 GPSM3 DXO SNORD84 HSPA1L PRRT1 STK19 SNORD52 TNXA SNORD117 LY6G5B LOC100287329 ABHD16A LY6G6F LST1 ATF6B TNF LY6G6C LOC102725068 CYP21A1P SAPCD1-AS1 PPT2 LTA
nsv10823 Chr.6:31903219 - 31912449 on Build GRCh38 Loss C2
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion SLC39A7 TNXB DDAH2 LOC101929163 C6orf10 MIR1236 MIR219A1 MIR6833 C6orf47 VWA7 C4B HLA-DPA1 MIR4646 LTB MIR6832 CUTA HCP5 ATP6V1G2-DDX39B HCG23 MIR3135B ZBTB12 RNF5 BAG6 LY6G6D HLA-DPB1 HSD17B8 HSPA1B BRD2 NEU1 LY6G5C C4A PSMB8-AS1 ZBTB22 AGPAT1 HCG26 SNORA38 PSMB9 CFB LY6G6E SNORD48 PRRC2A CLIC1 EHMT2 HLA-DRA LSM2 DDX39B-AS1 RING1 HSPA1A PFDN6 HCG25 DAXX NELFE FKBPL HLA-DMA GPSM3 PSMB8 HSPA1L PRRT1 SNORD52 SNORD117 LOC100287329 SYNGAP1 MIR6873 HLA-DOB HLA-DQB2 LY6G6F LST1 B3GALT4 TNF LY6G6C LOC102725068 TAPBP CYP21A1P PPT2 LTA AGER MICB NOTCH4 DDX39B PBX2 GPANK1 MCCD1 MSH5 HLA-DRB5 HLA-DQB1-AS1 C6orf25 CSNK2B MIR6721 C2-AS1 ATP6V1G2 AIF1 WDR46 SLC44A4 NCR3 RXRB HLA-DMB PPT2-EGFL8 APOM SAPCD1 HLA-DOA HLA-DRB1 KIFC1 LOC100507547 RGL2 COL11A2 LOC100294145 CYP21A2 C6orf48 HLA-DQA1 C2 MIR5004 TAP2 SKIV2L VARS HLA-DRB6 MSH5-SAPCD1 PPP1R2P1 NFKBIL1 BTNL2 TAP1 MIR6834 ZBTB9 HCG24 VPS52 EGFL8 DXO SNORD84 STK19 TNXA LY6G5B ABHD16A HLA-DQB1 HLA-DPB2 PHF1 HLA-DQA2 ATF6B RPS18 SAPCD1-AS1
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss TNXB DDAH2 MICB DDX39B MIR1236 GPANK1 MCCD1 MSH5 C6orf47 VWA7 C6orf25 C4B MIR4646 LTB CSNK2B MIR6832 HCP5 C2-AS1 ATP6V1G2 AIF1 ATP6V1G2-DDX39B SLC44A4 NCR3 ZBTB12 HLA-B BAG6 LY6G6D HSPA1B APOM NEU1 LY6G5C C4A SAPCD1 CYP21A2 C6orf48 HCG26 SNORA38 C2 CFB LY6G6E SNORD48 PRRC2A CLIC1 EHMT2 SKIV2L VARS LSM2 DDX39B-AS1 MSH5-SAPCD1 NFKBIL1 MICA HSPA1A NELFE DXO SNORD84 HSPA1L STK19 SNORD52 TNXA SNORD117 LY6G5B LOC100287329 ABHD16A MIR6891 LY6G6F LST1 TNF LY6G6C LOC102725068 CYP21A1P SAPCD1-AS1 LTA
esv3890823 Chr.6:31903708 - 31910718 on Build GRCh38 Loss C2
nsv508399 Chr.6:31861697 - 31934646 on Build GRCh38 Deletion SLC44A4 ZBTB12 EHMT2 NEU1 C2-AS1 C2

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More Information


Additional Information:

For this assay, SNP(s) [rs66804014] 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

Gene Ontology Categories:

Function(s) Process(es)


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