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

Chr.17:3638016 on build GRCh38
Cytoband
17p13.2
Assay ID Hs03976364_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 Intron 2
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

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

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