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

Chr.17:3648835 on build GRCh38
Cytoband
17p13.2
Assay ID Hs02627930_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:

 Overlaps Intron 4 - Exon 5
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 SHPK P2RX5-TAX1BP3 TRPV1 CTNS
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss SHPK TRPV1 CTNS
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain TAX1BP3 SHPK CAMKK1 P2RX5-TAX1BP3 GSG2 OR3A2 ASPA SPATA22 OR1E2 TRPV1 P2RX5 OR3A3 ITGAE TRPV3 NCBP3 EMC6 CTNS OR1E1
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss SHPK TRPV1 CTNS
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain SHPK TRPV3 TRPV1 CTNS
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss SHPK TRPV1 CTNS
nsv1947 Chr.17:3641882 - 3673842 on Build GRCh38 Insertion TAX1BP3 P2RX5-TAX1BP3 EMC6 CTNS P2RX5
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TAX1BP3 SHPK P2RX5-TAX1BP3 TRPV1 CTNS
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion TAX1BP3 P2RX5-TAX1BP3 EMC6 CTNS P2RX5
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain PAFAH1B1 SHPK CAMKK1 MIR6776 P2RX5-TAX1BP3 OR1G1 SPATA22 TRPV1 P2RX5 RAP1GAP2 OR3A3 CLUH TRPV3 NCBP3 LOC105371591 CTNS OR1D4 OR1D5 TAX1BP3 OR1A1 GSG2 MIR1253 LOC105371592 OR3A2 ASPA OR3A1 OR1E2 OR1D2 OR3A4P ITGAE CCDC92B LOC101927911 ATP2A3 EMC6 P2RX1 OR1E1 OR1A2
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss TAX1BP3 ITGAE SHPK P2RX5-TAX1BP3 GSG2 TRPV3 ASPA SPATA22 TRPV1 EMC6 CTNS P2RX5
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss SHPK TRPV3 TRPV1 CTNS
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion SHPK TRPV1 CTNS
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss TAX1BP3 ITGAE SHPK P2RX5-TAX1BP3 GSG2 EMC6 CTNS P2RX5
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TAX1BP3 SHPK P2RX5-TAX1BP3 TRPV1 CTNS

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