accessibility menu, dialog, popup

UserName
Viewing profile as user:

Please enter the information below and press OK to send your cart to Core Services for purchase.

    

System Message

OKCancel
LOADING ...
See other C4A CNV Assays ›
Gene Symbol
C4A
Assay Reference Genome
Location

Chr.6:31984640 on build GRCh38
Cytoband
6p21.33
Assay ID Hs07226352_cn
Size
Availability Made To Order
Catalog # 4400291
Price
Your Price
Online offer:
Check your price ›

Assay Details

Target Gene Details

Entrez Gene ID:

 720

Gene Name:

 complement component 4A (Rodgers blood group)

Gene Aliases:

 C4, C4A2, C4A3, C4A4, C4A6, C4AD, C4S, CO4, CPAMD2, RG

Location:

 Chr.6:31982057-32002680 on Build GRCh38

Assay Gene Location:

 Within Intron 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C4A NM_001252204.1 NP_001239133.1
NM_007293.2 NP_009224.2
AB209989.1
AK293191.1
AK293364.1
BC063289.1 AAH63289.1
BC144546.1
BC146673.1
BC146849.1
BC151204.1
BC171786.1
BX452374.2
K02403.1 AAB59537.1

Target Gene Details

Entrez Gene ID:

 721

Gene Name:

 complement component 4B (Chido blood group)

Gene Aliases:

 C4B1, C4B12, C4B2, C4B3, C4B5, C4BD, C4B_2, C4F, CH, CO4, CPAMD3

Location:

 Chr.6:32014795-32035418 on Build GRCh38

Assay Gene Location:

 Within Intron 20
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
C4B NM_001002029.3 NP_001002029.3
AK304564.1
CD624022.1
DA395398.1
K02404.1 AAA59651.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv10478n54 Chr.6:32008352 - 32022321 on Build GRCh38 Loss CYP21A1P C4B TNXA
nsv602045 Chr.6:31996469 - 32046679 on Build GRCh38 Gain C4A TNXB CYP21A1P C4B TNXA CYP21A2
nsv471443 Chr.6:32014795 - 32035417 on Build GRCh38 Gain C4B
nsv1112900 Chr.6:31455323 - 33480423 on Build GRCh38 Deletion ATP6V1G2 MSH5 SKIV2L DAXX AGPAT1 TNXA MIR6833 PSMB8 MICB PSMB9 RING1 FKBPL HLA-DOB GPANK1 AIF1 SLC44A4 ZBTB12 VARS CUTA SAPCD1 HCG26 RGL2 SYNGAP1 HCP5 VPS52 HLA-DPA1 APOM PFDN6 HSPA1L PSMB8-AS1 RPS18 DXO AGER MSH5-SAPCD1 CFB HSPA1A RXRB NFKBIL1 LOC101929163 HCG24 SNORD52 VWA7 HLA-DRB5 MIR6721 HLA-DQA1 BAG6 NCR3 PPT2-EGFL8 SNORD48 C6orf48 B3GALT4 NOTCH4 C2-AS1 LY6G6F PRRT1 PBX2 HLA-DRB1 SNORD84 LY6G6D MIR6832 BTNL2 LST1 LOC100287329 CYP21A1P ABHD16A HLA-DOA CLIC1 HLA-DQB1-AS1 CSNK2B LSM2 SLC39A7 CYP21A2 MIR4646 TAP2 HLA-DQB2 HLA-DPB1 PRRC2A DDAH2 HLA-DMA C4B LOC100294145 SAPCD1-AS1 LOC102725068 MIR5004 SNORA38 C6orf10 PHF1 KIFC1 PPP1R2P1 HSPA1B HLA-DRA HCG23 TAP1 MCCD1 WDR46 TNF COL11A2 GPSM3 STK19 ATP6V1G2-DDX39B ZBTB9 LY6G6E LTA LTB C4A NEU1 HCG25 EHMT2 HSD17B8 LY6G6C HLA-DQA2 MIR219A1 PPT2 MIR6873 LY6G5C ZBTB22 NELFE RNF5 C2 HLA-DMB MIR6834 LOC100507547 MIR1236 MIR3135B TNXB SNORD117 EGFL8 DDX39B BRD2 HLA-DRB6 C6orf25 LY6G5B DDX39B-AS1 HLA-DQB1 C6orf47 TAPBP HLA-DPB2 ATF6B
dgv10404n54 Chr.6:31312550 - 32516591 on Build GRCh38 Loss ATP6V1G2 MSH5 CSNK2B SKIV2L LSM2 AGPAT1 TNXA HLA-B CYP21A2 MIR4646 MIR6833 PRRC2A MICB DDAH2 C4B FKBPL GPANK1 SAPCD1-AS1 AIF1 LOC102725068 SLC44A4 ZBTB12 MICA VARS SNORA38 C6orf10 SAPCD1 HCG26 HSPA1B HLA-DRA HCG23 HCP5 MCCD1 APOM TNF GPSM3 HSPA1L STK19 ATP6V1G2-DDX39B DXO LY6G6E LTA AGER LTB MSH5-SAPCD1 CFB C4A NEU1 HSPA1A NFKBIL1 LOC101929163 SNORD52 VWA7 EHMT2 LY6G6C PPT2 MIR6721 LY6G5C BAG6 NELFE MIR6891 NCR3 RNF5 C2 PPT2-EGFL8 LOC100507547 MIR1236 SNORD48 C6orf48 TNXB NOTCH4 C2-AS1 SNORD117 EGFL8 DDX39B LY6G6F PRRT1 PBX2 C6orf25 SNORD84 LY6G5B DDX39B-AS1 LY6G6D MIR6832 BTNL2 LST1 LOC100287329 CYP21A1P ABHD16A C6orf47 CLIC1 ATF6B
esv3890827 Chr.6:31981575 - 32043703 on Build GRCh38 Gain+Loss C4A TNXB CYP21A1P C4B TNXA CYP21A2
nsv5247 Chr.6:31957962 - 32055439 on Build GRCh38 Deletion C4A TNXB CYP21A1P C4B SKIV2L NELFE STK19 TNXA DXO CYP21A2
nsv601971 Chr.6:31971488 - 32046679 on Build GRCh38 Gain C4A TNXB CYP21A1P C4B STK19 TNXA DXO CYP21A2
esv2759415 Chr.6:31903735 - 32241336 on Build GRCh38 Gain+Loss CFB C4A SKIV2L AGPAT1 TNXA CYP21A2 MIR6833 PPT2 MIR6721 C4B FKBPL NELFE RNF5 C2 PPT2-EGFL8 LOC100507547 MIR1236 TNXB NOTCH4 C2-AS1 EGFL8 PRRT1 PBX2 CYP21A1P GPSM3 STK19 DXO ATF6B AGER
esv2731825 Chr.6:32011073 - 32044089 on Build GRCh38 Deletion TNXB C4B TNXA CYP21A2
dgv10403n54 Chr.6:31312324 - 32049763 on Build GRCh38 Loss ATP6V1G2 MSH5 CSNK2B SKIV2L LSM2 TNXA HLA-B CYP21A2 MIR4646 PRRC2A MICB DDAH2 C4B GPANK1 SAPCD1-AS1 AIF1 LOC102725068 SLC44A4 ZBTB12 MICA VARS SNORA38 SAPCD1 HCG26 HSPA1B HCP5 MCCD1 APOM TNF HSPA1L STK19 ATP6V1G2-DDX39B DXO LY6G6E LTA LTB MSH5-SAPCD1 CFB C4A NEU1 HSPA1A NFKBIL1 SNORD52 VWA7 EHMT2 LY6G6C LY6G5C BAG6 NELFE MIR6891 NCR3 C2 MIR1236 SNORD48 C6orf48 TNXB C2-AS1 SNORD117 DDX39B LY6G6F C6orf25 SNORD84 LY6G5B DDX39B-AS1 LY6G6D MIR6832 LST1 LOC100287329 CYP21A1P ABHD16A C6orf47 CLIC1
nsv602050 Chr.6:31996807 - 32017441 on Build GRCh38 Loss C4A CYP21A1P C4B TNXA
dgv10476n54 Chr.6:32004593 - 32029276 on Build GRCh38 Loss CYP21A1P C4B TNXA
nsv10824 Chr.6:31980357 - 32046247 on Build GRCh38 Gain+Loss C4A TNXB CYP21A1P C4B STK19 TNXA CYP21A2
dgv10479n54 Chr.6:32011830 - 32023513 on Build GRCh38 Loss C4B TNXA
nsv823508 Chr.6:32006063 - 32029010 on Build GRCh38 Gain CYP21A1P C4B TNXA
esv3413736 Chr.6:32008397 - 32017395 on Build GRCh38 Duplication CYP21A1P C4B TNXA
dgv10477n54 Chr.6:32005403 - 32042485 on Build GRCh38 Loss TNXB CYP21A1P C4B TNXA CYP21A2
nsv602073 Chr.6:32014996 - 32023513 on Build GRCh38 Loss C4B
dgv20n31 Chr.6:31990245 - 32046126 on Build GRCh38 Gain C4A TNXB CYP21A1P C4B TNXA CYP21A2
nsv950155 Chr.6:32005124 - 32037723 on Build GRCh38 Deletion CYP21A1P C4B TNXA
nsv511870 Chr.6:32016002 - 32023803 on Build GRCh38 Loss C4B
dgv10468n54 Chr.6:31983430 - 32045574 on Build GRCh38 Loss C4A TNXB CYP21A1P C4B TNXA CYP21A2
nsv285 Chr.6:32009269 - 32055439 on Build GRCh38 Deletion TNXB C4B TNXA CYP21A2
dgv3475e59 Chr.6:32013297 - 32017395 on Build GRCh38 Duplication C4B
dgv10466n54 Chr.6:31980320 - 32029165 on Build GRCh38 Loss C4A CYP21A1P C4B STK19 TNXA
esv28110 Chr.6:31980130 - 32048749 on Build GRCh38 Gain+Loss C4A TNXB CYP21A1P C4B STK19 TNXA CYP21A2
dgv10472n54 Chr.6:31985690 - 32812026 on Build GRCh38 Loss HLA-DQB1-AS1 C4A LOC101929163 AGPAT1 TNXA CYP21A2 MIR6833 HLA-DQB2 HLA-DRB5 HLA-DQA2 PPT2 MIR6721 HLA-DQA1 C4B FKBPL RNF5 PPT2-EGFL8 LOC100507547 MIR3135B C6orf10 TNXB NOTCH4 EGFL8 PRRT1 PBX2 HLA-DRB6 HLA-DRA HCG23 HLA-DRB1 BTNL2 HLA-DQB1 CYP21A1P GPSM3 ATF6B AGER
dgv10463n54 Chr.6:31817661 - 32683279 on Build GRCh38 Loss HLA-DQB1-AS1 SKIV2L AGPAT1 TNXA CYP21A2 MIR6833 C4B FKBPL SLC44A4 ZBTB12 C6orf10 HSPA1B HLA-DRA HCG23 GPSM3 STK19 DXO AGER CFB C4A NEU1 HSPA1A LOC101929163 SNORD52 EHMT2 HLA-DRB5 PPT2 MIR6721 HLA-DQA1 NELFE RNF5 C2 PPT2-EGFL8 LOC100507547 MIR1236 SNORD48 C6orf48 TNXB NOTCH4 C2-AS1 EGFL8 PRRT1 PBX2 HLA-DRB6 HLA-DRB1 BTNL2 HLA-DQB1 CYP21A1P ATF6B
nsv1126749 Chr.6:31457323 - 32594423 on Build GRCh38 Deletion ATP6V1G2 MSH5 CSNK2B SKIV2L LSM2 AGPAT1 TNXA CYP21A2 MIR4646 MIR6833 PRRC2A MICB DDAH2 C4B FKBPL GPANK1 SAPCD1-AS1 AIF1 LOC102725068 SLC44A4 ZBTB12 VARS SNORA38 C6orf10 SAPCD1 HCG26 HSPA1B HLA-DRA HCG23 HCP5 MCCD1 APOM TNF GPSM3 HSPA1L STK19 ATP6V1G2-DDX39B DXO LY6G6E LTA AGER LTB MSH5-SAPCD1 CFB C4A NEU1 HSPA1A NFKBIL1 LOC101929163 SNORD52 VWA7 EHMT2 LY6G6C HLA-DRB5 PPT2 MIR6721 LY6G5C BAG6 NELFE NCR3 RNF5 C2 PPT2-EGFL8 LOC100507547 MIR1236 SNORD48 C6orf48 TNXB NOTCH4 C2-AS1 SNORD117 EGFL8 DDX39B LY6G6F PRRT1 PBX2 HLA-DRB6 C6orf25 HLA-DRB1 SNORD84 LY6G5B DDX39B-AS1 LY6G6D MIR6832 BTNL2 LST1 LOC100287329 CYP21A1P ABHD16A C6orf47 CLIC1 ATF6B
dgv10481n54 Chr.6:32017441 - 32029165 on Build GRCh38 Loss C4B
nsv1073969 Chr.6:31456422 - 33480523 on Build GRCh38 Deletion ATP6V1G2 MSH5 SKIV2L DAXX AGPAT1 TNXA MIR6833 PSMB8 MICB PSMB9 RING1 FKBPL HLA-DOB GPANK1 AIF1 SLC44A4 ZBTB12 VARS CUTA SAPCD1 HCG26 RGL2 SYNGAP1 HCP5 VPS52 HLA-DPA1 APOM PFDN6 HSPA1L PSMB8-AS1 RPS18 DXO AGER MSH5-SAPCD1 CFB HSPA1A RXRB NFKBIL1 LOC101929163 HCG24 SNORD52 VWA7 HLA-DRB5 MIR6721 HLA-DQA1 BAG6 NCR3 PPT2-EGFL8 SNORD48 C6orf48 B3GALT4 NOTCH4 C2-AS1 LY6G6F PRRT1 PBX2 HLA-DRB1 SNORD84 LY6G6D MIR6832 BTNL2 LST1 LOC100287329 CYP21A1P ABHD16A HLA-DOA CLIC1 HLA-DQB1-AS1 CSNK2B LSM2 SLC39A7 CYP21A2 MIR4646 TAP2 HLA-DQB2 HLA-DPB1 PRRC2A DDAH2 HLA-DMA C4B LOC100294145 SAPCD1-AS1 LOC102725068 MIR5004 SNORA38 C6orf10 PHF1 KIFC1 PPP1R2P1 HSPA1B HLA-DRA HCG23 TAP1 MCCD1 WDR46 TNF COL11A2 GPSM3 STK19 ATP6V1G2-DDX39B ZBTB9 LY6G6E LTA LTB C4A NEU1 HCG25 EHMT2 HSD17B8 LY6G6C HLA-DQA2 MIR219A1 PPT2 MIR6873 LY6G5C ZBTB22 NELFE RNF5 C2 HLA-DMB MIR6834 LOC100507547 MIR1236 MIR3135B TNXB SNORD117 EGFL8 DDX39B BRD2 HLA-DRB6 C6orf25 LY6G5B DDX39B-AS1 HLA-DQB1 C6orf47 TAPBP HLA-DPB2 ATF6B
nsv819957 Chr.6:31988273 - 32033484 on Build GRCh38 Loss C4A CYP21A1P C4B TNXA
nsv981129 Chr.6:31980992 - 32057861 on Build GRCh38 Duplication C4A TNXB CYP21A1P C4B STK19 TNXA CYP21A2
nsv823507 Chr.6:31995856 - 32028806 on Build GRCh38 Loss C4A CYP21A1P C4B TNXA
nsv602074 Chr.6:32017378 - 32033945 on Build GRCh38 Loss C4B
nsv499146 Chr.6:32017421 - 32023797 on Build GRCh38 Loss C4B

Back To Top

More Information


Important Information

The Hs07226352_cn assay specifically detects the long form (aka C4L) of the C4 gene family members, C4A and C4B, which encode functionally distinct protein isoforms. Long and short forms of the C4 genes exist due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus inserted into intron 9. Assay Hs07226351_cn detects the short form (aka C4S) of the C4 genes. Assays are also available that specifically detect each C4 isoform: assay Hs07226349_cn detects the C4A gene and assay Hs07226350_cn detects the C4B gene. Individuals can have deletions or multiple copies of the C4 genes. The number of C4A and C4B genes equals the number of C4 long and C4 short gene forms in an individual.
Hs07226351_cn assay for C4 gene short form (C4S)

Additional Information:

This assay has 2 genomic targets in NCBI build GRCh38

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation Validated

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Function(s) Process(es)


Back To Top

Related Products