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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
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:

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

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