Product Details

Primer Sequences
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Primer Chromosome Location
Chr.20: 10408253-10408804 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
MKKS
Entrez Gene ID
8195
Gene Name
McKusick-Kaufman syndrome
Gene Aliases
BBS6, HMCS, KMS, MKS
UniGene
Hs.472119
Gene Chromosome Location
Chr.20: 10404780-10434239 on Build GRCh38
Transcripts
NM_018848.3 NM_170784.2 NR_072977.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4019704 c.1157T>G p.L386R Chr.20: 10408632-10408632 on Build GRCh38
1024390 c.1123C>A p.L375I Chr.20: 10408666-10408666 on Build GRCh38
7281541 c.990A>G p.T330T Chr.20: 10408799-10408799 on Build GRCh38
6433069 c.989C>T p.T330I Chr.20: 10408800-10408800 on Build GRCh38
4096607 c.1155G>A p.E385E Chr.20: 10408634-10408634 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs752192391 Chr.20: 10408685-10408685 on Build GRCh38
rs903088801 Chr.20: 10408554-10408554 on Build GRCh38
rs535599086 Chr.20: 10408388-10408388 on Build GRCh38
rs1054051309 Chr.20: 10408492-10408492 on Build GRCh38
rs536419714 Chr.20: 10408638-10408638 on Build GRCh38
rs766731269 Chr.20: 10408657-10408657 on Build GRCh38
rs999812534 Chr.20: 10408299-10408299 on Build GRCh38
rs534644334 Chr.20: 10408764-10408764 on Build GRCh38
rs192968747 Chr.20: 10408625-10408625 on Build GRCh38
rs949881452 Chr.20: 10408538-10408538 on Build GRCh38
rs901132300 Chr.20: 10408549-10408549 on Build GRCh38
rs777134674 Chr.20: 10408778-10408778 on Build GRCh38
rs973676101 Chr.20: 10408781-10408781 on Build GRCh38
rs761886025 Chr.20: 10408624-10408624 on Build GRCh38
rs74356748 Chr.20: 10408478-10408478 on Build GRCh38
rs6133909 Chr.20: 10408570-10408570 on Build GRCh38
rs779116830 Chr.20: 10408755-10408755 on Build GRCh38
rs1032673837 Chr.20: 10408321-10408321 on Build GRCh38
rs1039815952 Chr.20: 10408547-10408547 on Build GRCh38
rs776800916 Chr.20: 10408424-10408424 on Build GRCh38
rs569774027 Chr.20: 10408303-10408303 on Build GRCh38
rs923874835 Chr.20: 10408472-10408472 on Build GRCh38
rs34922717 Chr.20: 10408406-10408406 on Build GRCh38
rs774410680 Chr.20: 10408622-10408622 on Build GRCh38
rs970344364 Chr.20: 10408703-10408703 on Build GRCh38
rs749489240 Chr.20: 10408602-10408602 on Build GRCh38
rs887387284 Chr.20: 10408589-10408589 on Build GRCh38
rs768799434 Chr.20: 10408730-10408730 on Build GRCh38
rs540499958 Chr.20: 10408336-10408336 on Build GRCh38
rs147882975 Chr.20: 10408691-10408691 on Build GRCh38
rs923861491 Chr.20: 10408719-10408719 on Build GRCh38
rs144892179 Chr.20: 10408678-10408678 on Build GRCh38
rs1029793006 Chr.20: 10408662-10408662 on Build GRCh38
rs367664766 Chr.20: 10408745-10408745 on Build GRCh38
rs139903158 Chr.20: 10408757-10408757 on Build GRCh38
rs1017561035 Chr.20: 10408606-10408606 on Build GRCh38
rs963751207 Chr.20: 10408344-10408344 on Build GRCh38
rs781026146 Chr.20: 10408712-10408712 on Build GRCh38
rs780473340 Chr.20: 10408773-10408774 on Build GRCh38
rs373858682 Chr.20: 10408704-10408704 on Build GRCh38
rs545481184 Chr.20: 10408692-10408692 on Build GRCh38
rs1055866608 Chr.20: 10408528-10408528 on Build GRCh38
rs531442942 Chr.20: 10408508-10408508 on Build GRCh38
rs751549537 Chr.20: 10408702-10408702 on Build GRCh38
rs555290323 Chr.20: 10408390-10408390 on Build GRCh38
rs987666544 Chr.20: 10408439-10408439 on Build GRCh38
rs756277808 Chr.20: 10408609-10408615 on Build GRCh38
rs1000098113 Chr.20: 10408560-10408560 on Build GRCh38
rs1041588536 Chr.20: 10408548-10408548 on Build GRCh38
rs998203068 Chr.20: 10408569-10408569 on Build GRCh38
rs962360855 Chr.20: 10408465-10408465 on Build GRCh38
rs745728640 Chr.20: 10408722-10408722 on Build GRCh38
rs111858862 Chr.20: 10408616-10408616 on Build GRCh38
rs200691717 Chr.20: 10408601-10408601 on Build GRCh38
rs761224725 Chr.20: 10408773-10408773 on Build GRCh38
rs6104602 Chr.20: 10408293-10408293 on Build GRCh38
rs1029384233 Chr.20: 10408389-10408389 on Build GRCh38
rs937392699 Chr.20: 10408526-10408526 on Build GRCh38
rs773787392 Chr.20: 10408629-10408629 on Build GRCh38
rs893886895 Chr.20: 10408515-10408515 on Build GRCh38
rs367618891 Chr.20: 10408743-10408743 on Build GRCh38
rs973396625 Chr.20: 10408474-10408474 on Build GRCh38
rs917346618 Chr.20: 10408533-10408533 on Build GRCh38
rs551224999 Chr.20: 10408529-10408529 on Build GRCh38
rs571217642 Chr.20: 10408534-10408534 on Build GRCh38
rs137853909 Chr.20: 10408774-10408774 on Build GRCh38
rs916282336 Chr.20: 10408386-10408386 on Build GRCh38
rs529066388 Chr.20: 10408447-10408447 on Build GRCh38
rs754207459 Chr.20: 10408660-10408660 on Build GRCh38
rs558813240 Chr.20: 10408761-10408761 on Build GRCh38
rs568928104 Chr.20: 10408503-10408503 on Build GRCh38
rs773201848 Chr.20: 10408770-10408770 on Build GRCh38
rs773655915 Chr.20: 10408287-10408287 on Build GRCh38

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