Hs01733244_cn

• Gene Symbol: CA11
• Assay Reference Genome Location: Chr.19:48645969 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: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CA11	NM_001217.4	1	344	NP_001208.2
	NR_136241.1	1	344
	AB018195.1			BAA36840.1
	AF067662.1			AAC99689.1
	AY358967.1	1	249	AAQ89326.1
	BX440526.2	1	344

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

More Information

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

Gene Ontology Categories:

Function(s)

carbonate dehydratase activity