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

Chr.17:3637255 on build GRCh38
Cytoband
17p13.2
Assay ID Hs01436786_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CTNS NM_001031681.2 2 390 NP_001026851.2
NM_004937.2 2 513 NP_004928.2
XM_005256485.2 2 513 XP_005256542.1
XM_006721463.2 2 462 XP_006721526.1
XM_006721464.2 2 513 XP_006721527.1
XM_011523691.2 2 312 XP_011521993.1
XM_011523692.2 2 513 XP_011521994.1
XM_017024254.1 2 513 XP_016879743.1
XM_017024255.1 2 513 XP_016879744.1
XM_017024256.1 2 513 XP_016879745.1
XM_017024257.1 2 513 XP_016879746.1
XM_017024258.1 2 513 XP_016879747.1
AJ222967.1 2 259 CAA11021.1
AK292019.1 2 226
AK296178.1 2 252
AK297525.1 2 250
AK309044.1 2 223
AK309651.1 2 223
BC032850.2 2 379 AAH32850.1
DB026195.1 2 513

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 P2RX5-TAX1BP3 SHPK TRPV1 CTNS
esv3639749 Chr.17:3570544 - 3639124 on Build GRCh38 Gain SHPK TRPV1 CTNS
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss SHPK TRPV1 CTNS
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss SHPK TRPV1 CTNS
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain TAX1BP3 OR3A3 SPATA22 TRPV3 P2RX5 ASPA SHPK TRPV1 ITGAE CTNS OR1E1 P2RX5-TAX1BP3 CAMKK1 OR1E2 GSG2 OR3A2 EMC6 NCBP3
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain TRPV3 SHPK TRPV1 CTNS
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss SHPK TRPV1 CTNS
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TAX1BP3 P2RX5-TAX1BP3 SHPK TRPV1 CTNS
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss TRPV3 SHPK TRPV1 CTNS
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss TAX1BP3 P2RX5-TAX1BP3 SPATA22 TRPV3 GSG2 P2RX5 ASPA SHPK TRPV1 ITGAE EMC6 CTNS
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain TAX1BP3 OR3A3 SPATA22 P2RX1 OR3A1 ASPA TRPV1 ITGAE CTNS ATP2A3 OR1A2 P2RX5-TAX1BP3 CAMKK1 OR1D5 LOC105371591 OR1E2 GSG2 RAP1GAP2 PAFAH1B1 OR3A2 CCDC92B OR1D2 LOC101927911 OR3A4P LOC105371592 MIR1253 TRPV3 P2RX5 MIR6776 SHPK OR1E1 OR1D4 CLUH OR1G1 OR1A1 EMC6 NCBP3
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion SHPK TRPV1 CTNS
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss TAX1BP3 P2RX5-TAX1BP3 GSG2 P2RX5 SHPK ITGAE EMC6 CTNS
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TAX1BP3 P2RX5-TAX1BP3 SHPK TRPV1 CTNS

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