Hs01250373_cn

• Gene Symbol: CA11
• Assay Reference Genome Location: Chr.19:48639566 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 770
• Gene Name: carbonic anhydrase 11
• Gene Aliases: CARPX1
• Location: Chr.19:48637942-48646312 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CA11	NM_001217.4			NP_001208.2
	NR_136241.1
	AB018195.1			BAA36840.1
	AF050106.1			AAD08802.1
	AF067662.1			AAC99689.1
	AY358967.1			AAQ89326.1
	BC002662.2			AAH02662.1
	BT007265.1			AAP35929.1
	CR541772.1			CAG46571.1

Target Gene Details

• Entrez Gene ID: 653677
• Gene Name: secretory blood group 1, pseudogene
• Gene Aliases: SEC1
• Location: Chr.19:48638039-48682245 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SEC1P	NR_004401.2
	AK301046.1
	AK301238.1
	D87946.1
	D87947.1
	DC353776.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	GFY LMTK3 SNAR-A7 NUP62 PLA2G4C-AS1 KDELR1 EMP3 CGB2 DHDH PNKP KCNA7 SNAR-A14 SNORD35B VRK3 CGB8 C19orf68 SNAR-D ZNF114 CGB5 RUVBL2 PLA2G4C ATF5 LHB CGB1 IZUMO1 MIR4751 PTOV1-AS1 ALDH16A1 GRIN2D SNAR-C5 ZNF473 NOSIP PPP1R15A SNAR-A2 SNAR-A11 SCAF1 TSKS RPL18 PRMT1 FLT3LG LOC101059948 FUT1 PTOV1 C19orf73 PIH1D1 CGB7 SNAR-A13 RPL13A MIR4749 PRR12 MAMSTR TEAD2 RPS11 IL4I1 KCNJ14 DBP FUZ SNORD32A FTL CARD8 TRPM4 SIGLEC11 RASIP1 CA11 BAX IRF3 MIR5088 SNAR-C3 TULP2 LIN7B SNAR-A8 LOC105372430 MIR6800 SNAR-B1 SPACA4 NUCB1-AS1 CCDC114 SLC17A7 DKKL1 MIR6798 LOC105447645 MIR6799 FLJ26850 PTOV1-AS2 ELSPBP1 SNAR-C2 BSPH1 CABP5 MED25 MIR150 RCN3 CD37 SNAR-A9 CPT1C CARD8-AS1 SNAR-C4 SPHK2 TBC1D17 ADM5 PPFIA3 SNAR-A12 LIG1 SNORD35A AP2A1 GYS1 SNAR-A1 HRC SNAR-A5 BCAT2 SNAR-G2 SIGLEC16 SNAR-A3 AKT1S1 GRWD1 SNAR-C1 MIR4324 SULT2B1 SNORD33 NUCB1 CYTH2 LOC100287477 MIR4750 SNORD34 FCGRT NTN5 RRAS SNAR-A10 PRRG2 SNAR-B2 FGF21 PLEKHA4 TMEM143 SLC6A16 SYNGR4 CGB3 SEC1P SNAR-A4 BCL2L12 SNAR-G1 NTF4 FUT2 LOC101928295 SNRNP70 PTH2 HSD17B14 SNAR-A6 CCDC155 FAM83E
dgv3617n100	Chr.19:48532114 - 48643732 on Build GRCh38	Gain	SPACA4 SULT2B1 RPL18 SPHK2 SEC1P CA11 DBP FAM83E

More Information

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

Gene Ontology Categories:

Function(s)

carbonate dehydratase activity