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

Chr.17:3637255 on build GRCh38
Cytoband
17p13.2
Assay ID Hs01436786_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 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CTNS NM_001031681.2 2 390 NP_001026851.2
NM_004937.2 2 513 NP_004928.2
XM_005256485.2 2 513 XP_005256542.1
XM_006721463.2 2 462 XP_006721526.1
XM_006721464.2 2 513 XP_006721527.1
XM_011523691.2 2 312 XP_011521993.1
XM_011523692.2 2 513 XP_011521994.1
XM_017024254.1 2 513 XP_016879743.1
XM_017024255.1 2 513 XP_016879744.1
XM_017024256.1 2 513 XP_016879745.1
XM_017024257.1 2 513 XP_016879746.1
XM_017024258.1 2 513 XP_016879747.1
AJ222967.1 2 259 CAA11021.1
AK292019.1 2 226
AK296178.1 2 252
AK297525.1 2 250
AK309044.1 2 223
AK309651.1 2 223
BC032850.2 2 379 AAH32850.1
DB026195.1 2 513

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

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