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

Chr.17:3640287 on build GRCh38
Cytoband
17p13.2
Assay ID Hs00772139_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 Exon 3 - 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 TRPV1 TAX1BP3 SHPK CTNS P2RX5-TAX1BP3
esv3639752 Chr.17:3601104 - 3658235 on Build GRCh38 Loss TRPV1 SHPK CTNS
nsv1055740 Chr.17:3381841 - 3890153 on Build GRCh38 Gain EMC6 GSG2 OR3A2 TAX1BP3 SHPK OR3A3 P2RX5 ITGAE CAMKK1 OR1E1 ASPA NCBP3 TRPV1 SPATA22 TRPV3 CTNS OR1E2 P2RX5-TAX1BP3
dgv882e212 Chr.17:3585851 - 3654158 on Build GRCh38 Loss TRPV1 SHPK CTNS
esv3572354 Chr.17:3528675 - 3654158 on Build GRCh38 Gain TRPV1 TRPV3 SHPK CTNS
esv2762588 Chr.17:3602274 - 3654159 on Build GRCh38 Loss TRPV1 SHPK CTNS
dgv5423n54 Chr.17:3601261 - 3665107 on Build GRCh38 Loss TRPV1 TAX1BP3 SHPK CTNS P2RX5-TAX1BP3
nsv1065489 Chr.17:2631416 - 3948349 on Build GRCh38 Gain GSG2 MIR6776 OR3A3 P2RX5 ITGAE P2RX1 OR1E1 OR1G1 CCDC92B PAFAH1B1 SPATA22 TRPV3 RAP1GAP2 LOC105371591 CTNS OR1E2 OR1D4 OR3A1 LOC101927911 EMC6 OR1D2 ATP2A3 OR3A2 OR1D5 TAX1BP3 SHPK CLUH CAMKK1 ASPA MIR1253 NCBP3 TRPV1 OR1A2 OR3A4P P2RX5-TAX1BP3 OR1A1 LOC105371592
nsv574237 Chr.17:3486822 - 3729542 on Build GRCh38 Loss EMC6 TRPV1 GSG2 TAX1BP3 SPATA22 TRPV3 SHPK CTNS P2RX5 P2RX5-TAX1BP3 ITGAE ASPA
nsv516676 Chr.17:3553441 - 3652130 on Build GRCh38 Gain+Loss TRPV1 TRPV3 SHPK CTNS
esv2662762 Chr.17:3601001 - 3658179 on Build GRCh38 Deletion TRPV1 SHPK CTNS
nsv833342 Chr.17:3626188 - 3806082 on Build GRCh38 Loss EMC6 GSG2 TAX1BP3 SHPK CTNS P2RX5 P2RX5-TAX1BP3 ITGAE
dgv358n27 Chr.17:3601921 - 3664167 on Build GRCh38 Loss TRPV1 TAX1BP3 SHPK CTNS P2RX5-TAX1BP3

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