Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 3656459-3656732 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
CTNS
Entrez Gene ID
1497
Gene Name
cystinosin, lysosomal cystine transporter
Gene Aliases
CTNS-LSB, PQLC4
UniGene
Hs.187667
Gene Chromosome Location
Chr.17: 3636391-3663103 on Build GRCh38
Transcripts
NM_001031681.2 NM_004937.2 XM_005256485.2 XM_006721463.2 XM_006721464.2 XM_011523691.2 XM_011523692.2 XM_017024254.1 XM_017024255.1 XM_017024256.1 XM_017024257.1 XM_017024258.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4518316 c.599_600CC>TT p.P200L Chr.17: 3656713-3656714 on Build GRCh38
6637661 c.615C>T p.D205D Chr.17: 3656729-3656729 on Build GRCh38
4675431 c.534C>T p.I178I Chr.17: 3656559-3656559 on Build GRCh38
4675433 c.589G>A p.G197R Chr.17: 3656703-3656703 on Build GRCh38
6637667 c.616G>A p.V206I Chr.17: 3656730-3656730 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs752632797 Chr.17: 3656560-3656560 on Build GRCh38
rs574563482 Chr.17: 3656557-3656557 on Build GRCh38
rs760508210 Chr.17: 3656565-3656565 on Build GRCh38
rs201042876 Chr.17: 3656607-3656607 on Build GRCh38
rs919667517 Chr.17: 3656655-3656655 on Build GRCh38
rs746185049 Chr.17: 3656519-3656519 on Build GRCh38
rs764063960 Chr.17: 3656656-3656656 on Build GRCh38
rs77453839 Chr.17: 3656487-3656487 on Build GRCh38
rs764168489 Chr.17: 3656569-3656569 on Build GRCh38
rs907916051 Chr.17: 3656539-3656539 on Build GRCh38
rs749999133 Chr.17: 3656684-3656684 on Build GRCh38
rs1023162876 Chr.17: 3656608-3656608 on Build GRCh38
rs189632527 Chr.17: 3656480-3656480 on Build GRCh38
rs769144872 Chr.17: 3656621-3656621 on Build GRCh38
rs778640058 Chr.17: 3656589-3656589 on Build GRCh38
rs1033509163 Chr.17: 3656562-3656562 on Build GRCh38
rs111256750 Chr.17: 3656590-3656590 on Build GRCh38
rs769993203 Chr.17: 3656547-3656547 on Build GRCh38
rs764861416 Chr.17: 3656676-3656676 on Build GRCh38
rs761366500 Chr.17: 3656672-3656672 on Build GRCh38
rs745365232 Chr.17: 3656543-3656544 on Build GRCh38
rs372250201 Chr.17: 3656650-3656650 on Build GRCh38
rs747488464 Chr.17: 3656535-3656535 on Build GRCh38
rs112390352 Chr.17: 3656528-3656528 on Build GRCh38
rs201287562 Chr.17: 3656625-3656625 on Build GRCh38
rs886038378 Chr.17: 3656579-3656579 on Build GRCh38
rs903192176 Chr.17: 3656551-3656551 on Build GRCh38
rs147565118 Chr.17: 3656505-3656505 on Build GRCh38
rs113994207 Chr.17: 3656703-3656703 on Build GRCh38
rs372542386 Chr.17: 3656624-3656624 on Build GRCh38
rs769251750 Chr.17: 3656536-3656536 on Build GRCh38
rs113967200 Chr.17: 3656559-3656559 on Build GRCh38
rs786204667 Chr.17: 3656587-3656587 on Build GRCh38
rs121908126 Chr.17: 3656531-3656531 on Build GRCh38
rs371533565 Chr.17: 3656506-3656506 on Build GRCh38
rs577044481 Chr.17: 3656714-3656714 on Build GRCh38
rs775142361 Chr.17: 3656621-3656622 on Build GRCh38
rs775118383 Chr.17: 3656638-3656638 on Build GRCh38
rs200818208 Chr.17: 3656512-3656512 on Build GRCh38
rs143405190 Chr.17: 3656541-3656541 on Build GRCh38
rs761945522 Chr.17: 3656545-3656545 on Build GRCh38
rs1020349553 Chr.17: 3656628-3656628 on Build GRCh38
rs780255290 Chr.17: 3656610-3656610 on Build GRCh38
rs1057517093 Chr.17: 3656544-3656545 on Build GRCh38
rs201858846 Chr.17: 3656634-3656634 on Build GRCh38
rs757955245 Chr.17: 3656702-3656702 on Build GRCh38
rs374751105 Chr.17: 3656591-3656591 on Build GRCh38
rs776712980 Chr.17: 3656660-3656660 on Build GRCh38
rs113994206 Chr.17: 3656498-3656498 on Build GRCh38
rs1800528 Chr.17: 3656529-3656529 on Build GRCh38
rs773440244 Chr.17: 3656548-3656548 on Build GRCh38
rs1040347769 Chr.17: 3656550-3656550 on Build GRCh38
rs765481486 Chr.17: 3656477-3656477 on Build GRCh38
rs778764492 Chr.17: 3656518-3656518 on Build GRCh38
rs548772179 Chr.17: 3656581-3656581 on Build GRCh38
rs369956858 Chr.17: 3656635-3656635 on Build GRCh38
rs961335018 Chr.17: 3656647-3656647 on Build GRCh38
rs769870975 Chr.17: 3656632-3656632 on Build GRCh38

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