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

Chr.17:3641879 on build GRCh38
Cytoband
17p13.2
Assay ID Hs03974220_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 1497

Gene Name:

 cystinosin, lysosomal cystine transporter

Gene Aliases:

 CTNS-LSB, PQLC4

Location:

 Chr.17:3636391-3663103 on Build GRCh38

Assay Gene Location:

 Within Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CTNS NM_001031681.2 NP_001026851.2
NM_004937.2 NP_004928.2
XM_005256485.2 XP_005256542.1
XM_006721463.2 XP_006721526.1
XM_006721464.2 XP_006721527.1
XM_011523691.2 XP_011521993.1
XM_011523692.2 XP_011521994.1
XM_017024254.1 XP_016879743.1
XM_017024255.1 XP_016879744.1
XM_017024256.1 XP_016879745.1
XM_017024257.1 XP_016879746.1
XM_017024258.1 XP_016879747.1
AJ222967.1 CAA11021.1
AK292019.1
AK296178.1
AK297525.1
AK309044.1
AK309651.1
BC032850.2 AAH32850.1
CR542058.1 CAG46855.1
KU178003.1
KU178004.1
KU178005.1
KU178006.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv3085n100 Chr.17:3595117 - 3665113 on Build GRCh38 Loss TRPV1 SHPK CTNS TAX1BP3 P2RX5-TAX1BP3
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss TRPV1 SHPK CTNS
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain TRPV1 OR1E2 OR3A3 SHPK CAMKK1 OR3A2 CTNS ASPA SPATA22 GSG2 P2RX5-TAX1BP3 EMC6 OR1E1 ITGAE P2RX5 TAX1BP3 TRPV3 NCBP3
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss TRPV1 SHPK CTNS
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain TRPV1 SHPK CTNS TRPV3
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss TRPV1 SHPK CTNS
nsv1947 Chr.17:3641882 - 3673842 on Build GRCh38 Insertion EMC6 CTNS P2RX5 TAX1BP3 P2RX5-TAX1BP3
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TRPV1 SHPK CTNS TAX1BP3 P2RX5-TAX1BP3
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion EMC6 CTNS P2RX5 TAX1BP3 P2RX5-TAX1BP3
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain SHPK OR3A2 OR3A1 SPATA22 GSG2 P2RX5-TAX1BP3 ITGAE OR1A2 P2RX5 ATP2A3 OR1G1 LOC105371591 TAX1BP3 TRPV3 NCBP3 RAP1GAP2 TRPV1 OR1E2 OR3A3 CAMKK1 MIR6776 CTNS OR1D4 OR1D2 ASPA P2RX1 EMC6 LOC105371592 OR1E1 OR1A1 MIR1253 CCDC92B CLUH PAFAH1B1 OR3A4P LOC101927911 OR1D5
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss EMC6 TRPV1 SHPK ITGAE CTNS P2RX5 TAX1BP3 TRPV3 ASPA SPATA22 GSG2 P2RX5-TAX1BP3
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss TRPV1 SHPK CTNS TRPV3
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion TRPV1 SHPK CTNS
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss EMC6 SHPK ITGAE CTNS P2RX5 TAX1BP3 GSG2 P2RX5-TAX1BP3
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TRPV1 SHPK CTNS TAX1BP3 P2RX5-TAX1BP3

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