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

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