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

Chr.17:3644387 on build GRCh38
Cytoband
17p13.2
Assay ID Hs04465568_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 CTNS TRPV1 SHPK TAX1BP3 P2RX5-TAX1BP3
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss CTNS TRPV1 SHPK
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain CTNS OR1E1 P2RX5-TAX1BP3 P2RX5 EMC6 OR1E2 ITGAE TRPV3 GSG2 OR3A3 NCBP3 TRPV1 SHPK SPATA22 OR3A2 TAX1BP3 ASPA CAMKK1
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss CTNS TRPV1 SHPK
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain CTNS TRPV1 SHPK TRPV3
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss CTNS TRPV1 SHPK
nsv1947 Chr.17:3641882 - 3673842 on Build GRCh38 Insertion CTNS TAX1BP3 P2RX5-TAX1BP3 P2RX5 EMC6
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss CTNS TRPV1 SHPK TAX1BP3 P2RX5-TAX1BP3
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion CTNS TAX1BP3 P2RX5-TAX1BP3 P2RX5 EMC6
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain OR3A4P OR1A1 OR1G1 LOC101927911 MIR6776 OR1A2 OR1E1 P2RX5-TAX1BP3 ATP2A3 PAFAH1B1 ITGAE RAP1GAP2 LOC105371591 P2RX1 OR3A3 TRPV1 SHPK LOC105371592 OR3A1 OR1D2 CTNS CCDC92B OR1D5 CLUH P2RX5 EMC6 MIR1253 OR1E2 TRPV3 OR1D4 GSG2 NCBP3 SPATA22 OR3A2 TAX1BP3 ASPA CAMKK1
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss GSG2 CTNS TRPV1 SHPK SPATA22 TAX1BP3 P2RX5-TAX1BP3 ASPA P2RX5 EMC6 ITGAE TRPV3
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss CTNS TRPV1 SHPK TRPV3
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion CTNS TRPV1 SHPK
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss GSG2 CTNS SHPK TAX1BP3 P2RX5-TAX1BP3 P2RX5 EMC6 ITGAE
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss CTNS TRPV1 SHPK TAX1BP3 P2RX5-TAX1BP3

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