Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 3647347-3647620 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
7363257 c.124G>A p.V42I Chr.17: 3647506-3647506 on Build GRCh38
7363256 c.124G>A p.V42I Chr.17: 3647506-3647506 on Build GRCh38
4512059 c.88C>T p.P30S Chr.17: 3647470-3647470 on Build GRCh38
4512058 c.88C>T p.P30S Chr.17: 3647470-3647470 on Build GRCh38
3988949 c.132C>T p.L44L Chr.17: 3647514-3647514 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs755782742 Chr.17: 3647394-3647394 on Build GRCh38
rs772569260 Chr.17: 3647475-3647475 on Build GRCh38
rs748125070 Chr.17: 3647448-3647448 on Build GRCh38
rs768724152 Chr.17: 3647557-3647557 on Build GRCh38
rs370833328 Chr.17: 3647504-3647504 on Build GRCh38
rs117404824 Chr.17: 3647490-3647490 on Build GRCh38
rs533430300 Chr.17: 3647528-3647528 on Build GRCh38
rs576315457 Chr.17: 3647462-3647462 on Build GRCh38
rs1035929364 Chr.17: 3647516-3647516 on Build GRCh38
rs767035144 Chr.17: 3647484-3647486 on Build GRCh38
rs765428193 Chr.17: 3647499-3647499 on Build GRCh38
rs755167662 Chr.17: 3647532-3647533 on Build GRCh38
rs754822084 Chr.17: 3647419-3647419 on Build GRCh38
rs759921102 Chr.17: 3647464-3647464 on Build GRCh38
rs774215063 Chr.17: 3647463-3647463 on Build GRCh38
rs775973977 Chr.17: 3647542-3647542 on Build GRCh38
rs781053360 Chr.17: 3647420-3647420 on Build GRCh38
rs144751390 Chr.17: 3647498-3647498 on Build GRCh38
rs879255613 Chr.17: 3647473-3647474 on Build GRCh38
rs367901921 Chr.17: 3647377-3647377 on Build GRCh38
rs753957302 Chr.17: 3647406-3647406 on Build GRCh38
rs148084080 Chr.17: 3647505-3647505 on Build GRCh38
rs952865762 Chr.17: 3647563-3647563 on Build GRCh38
rs199912595 Chr.17: 3647548-3647548 on Build GRCh38
rs750661418 Chr.17: 3647501-3647501 on Build GRCh38
rs990135552 Chr.17: 3647544-3647544 on Build GRCh38
rs902177752 Chr.17: 3647474-3647474 on Build GRCh38
rs202205725 Chr.17: 3647556-3647556 on Build GRCh38
rs946620661 Chr.17: 3647384-3647384 on Build GRCh38
rs368824629 Chr.17: 3647553-3647553 on Build GRCh38
rs777367316 Chr.17: 3647455-3647455 on Build GRCh38
rs761265471 Chr.17: 3647488-3647488 on Build GRCh38
rs943924564 Chr.17: 3647588-3647588 on Build GRCh38
rs766640125 Chr.17: 3647561-3647561 on Build GRCh38
rs943918679 Chr.17: 3647422-3647422 on Build GRCh38
rs565811521 Chr.17: 3647568-3647568 on Build GRCh38
rs778641729 Chr.17: 3647525-3647525 on Build GRCh38
rs201153770 Chr.17: 3647521-3647521 on Build GRCh38
rs752508194 Chr.17: 3647567-3647567 on Build GRCh38
rs146684402 Chr.17: 3647476-3647476 on Build GRCh38
rs1050000505 Chr.17: 3647374-3647374 on Build GRCh38
rs529436129 Chr.17: 3647555-3647555 on Build GRCh38
rs879255616 Chr.17: 3647502-3647502 on Build GRCh38
rs764079971 Chr.17: 3647571-3647571 on Build GRCh38
rs149369853 Chr.17: 3647491-3647491 on Build GRCh38
rs777463208 Chr.17: 3647409-3647409 on Build GRCh38
rs756058217 Chr.17: 3647514-3647514 on Build GRCh38
rs751669616 Chr.17: 3647523-3647524 on Build GRCh38
rs751346915 Chr.17: 3647418-3647418 on Build GRCh38
rs769148288 Chr.17: 3647452-3647452 on Build GRCh38
rs528594358 Chr.17: 3647574-3647574 on Build GRCh38
rs761890932 Chr.17: 3647554-3647554 on Build GRCh38
rs779143776 Chr.17: 3647415-3647415 on Build GRCh38
rs991984831 Chr.17: 3647595-3647595 on Build GRCh38
rs747371532 Chr.17: 3647545-3647545 on Build GRCh38
rs35086888 Chr.17: 3647506-3647506 on Build GRCh38
rs745744798 Chr.17: 3647522-3647522 on Build GRCh38
rs956128744 Chr.17: 3647533-3647533 on Build GRCh38
rs142642362 Chr.17: 3647451-3647451 on Build GRCh38
rs146060302 Chr.17: 3647518-3647518 on Build GRCh38
rs544098445 Chr.17: 3647541-3647541 on Build GRCh38

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