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

Chr.17:3636626 on build GRCh38
Cytoband
17p13.2
Assay ID Hs02857851_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 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CTNS NM_001031681.2 1 159 NP_001026851.2
NM_004937.2 1 159 NP_004928.2
XM_005256485.2 1 159 XP_005256542.1
XM_006721463.2 1 236 XP_006721526.1
XM_006721464.2 1 159 XP_006721527.1
XM_011523692.2 1 159 XP_011521994.1
XM_017024254.1 1 159 XP_016879743.1
XM_017024255.1 1 159 XP_016879744.1
XM_017024256.1 1 159 XP_016879745.1
XM_017024257.1 1 159 XP_016879746.1
XM_017024258.1 1 159 XP_016879747.1
BC032850.2 1 148 AAH32850.1
DB026195.1 1 159

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

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