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

Chr.17:3649698 on build GRCh38
Cytoband
17p13.2
Assay ID Hs03957948_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 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 CTNS P2RX5-TAX1BP3 TRPV1
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss SHPK CTNS TRPV1
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss SHPK CTNS TRPV1
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain TRPV3 EMC6 TAX1BP3 OR3A2 SPATA22 GSG2 ITGAE CTNS OR1E1 OR3A3 CAMKK1 SHPK NCBP3 P2RX5 P2RX5-TAX1BP3 TRPV1 ASPA OR1E2
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain TRPV3 SHPK CTNS TRPV1
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss SHPK CTNS TRPV1
nsv1947 Chr.17:3641882 - 3673842 on Build GRCh38 Insertion EMC6 TAX1BP3 P2RX5 CTNS P2RX5-TAX1BP3
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TAX1BP3 SHPK CTNS P2RX5-TAX1BP3 TRPV1
nsv952107 Chr.17:3640507 - 3691806 on Build GRCh38 Deletion EMC6 TAX1BP3 P2RX5 CTNS P2RX5-TAX1BP3
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss TRPV3 SHPK CTNS TRPV1
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss TRPV3 EMC6 TAX1BP3 SHPK SPATA22 GSG2 ITGAE P2RX5 CTNS P2RX5-TAX1BP3 TRPV1 ASPA
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain MIR1253 TAX1BP3 LOC105371592 MIR6776 OR1A2 CAMKK1 LOC101927911 OR1D4 OR3A4P CLUH RAP1GAP2 TRPV1 OR1G1 TRPV3 EMC6 OR1A1 PAFAH1B1 OR3A2 CCDC92B LOC105371591 SPATA22 ATP2A3 GSG2 OR1D2 ITGAE CTNS OR1E1 OR3A3 OR1D5 SHPK P2RX1 NCBP3 P2RX5 P2RX5-TAX1BP3 OR3A1 ASPA OR1E2
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion SHPK CTNS TRPV1
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss EMC6 TAX1BP3 SHPK GSG2 ITGAE P2RX5 CTNS P2RX5-TAX1BP3
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TAX1BP3 SHPK CTNS P2RX5-TAX1BP3 TRPV1

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