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

Chr.17:3646241 on build GRCh38
Cytoband
17p13.2
Assay ID Hs03965070_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 TAX1BP3 CTNS TRPV1 SHPK P2RX5-TAX1BP3
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss CTNS TRPV1 SHPK
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss CTNS TRPV1 SHPK
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain P2RX5 OR1E1 CTNS SPATA22 TRPV1 SHPK OR3A2 P2RX5-TAX1BP3 OR1E2 GSG2 ITGAE CAMKK1 NCBP3 TAX1BP3 ASPA EMC6 TRPV3 OR3A3
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 P2RX5 TAX1BP3 CTNS EMC6 P2RX5-TAX1BP3
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TAX1BP3 CTNS TRPV1 SHPK P2RX5-TAX1BP3
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion P2RX5 TAX1BP3 CTNS EMC6 P2RX5-TAX1BP3
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss CTNS TRPV1 SHPK TRPV3
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss P2RX5 TAX1BP3 ASPA CTNS SPATA22 EMC6 TRPV1 SHPK P2RX5-TAX1BP3 TRPV3 GSG2 ITGAE
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain P2RX5 OR1E1 CTNS SPATA22 TRPV1 OR3A2 P2RX5-TAX1BP3 OR1E2 OR1A1 OR1D5 OR3A1 ITGAE CAMKK1 NCBP3 LOC105371591 TAX1BP3 ASPA OR3A3 MIR1253 RAP1GAP2 OR1A2 CCDC92B OR1D4 SHPK OR1D2 PAFAH1B1 LOC105371592 GSG2 P2RX1 MIR6776 OR1G1 LOC101927911 EMC6 CLUH TRPV3 ATP2A3 OR3A4P
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion CTNS TRPV1 SHPK
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss P2RX5 TAX1BP3 CTNS EMC6 SHPK P2RX5-TAX1BP3 GSG2 ITGAE
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TAX1BP3 CTNS TRPV1 SHPK P2RX5-TAX1BP3

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