Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58206358-58206583 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
MKS1
Entrez Gene ID
54903
Gene Name
Meckel syndrome, type 1
Gene Aliases
BBS13, MES, MKS, POC12
UniGene
Hs.408843
Gene Chromosome Location
Chr.17: 58205436-58219605 on Build GRCh38
Transcripts
NM_001165927.1 NM_001321268.1 NM_001321269.1 NM_017777.3 XM_005257485.3 XM_006721965.2 XM_011524957.2 XM_011524958.2 XM_011524959.2 XM_017024803.1 XM_017024805.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4702321 c.1439C>T p.T480I Chr.17: 58206516-58206516 on Build GRCh38
6713174 c.1435C>T p.R479C Chr.17: 58206520-58206520 on Build GRCh38
3388040 c.1506G>A p.S502S Chr.17: 58206365-58206365 on Build GRCh38
4702320 c.1476T>C p.C492C Chr.17: 58206479-58206479 on Build GRCh38
5386872 c.1512C>T p.S504S Chr.17: 58206359-58206359 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs762668200 Chr.17: 58206543-58206544 on Build GRCh38
rs372079593 Chr.17: 58206445-58206445 on Build GRCh38
rs111315726 Chr.17: 58206519-58206519 on Build GRCh38
rs886038203 Chr.17: 58206382-58206382 on Build GRCh38
rs776303055 Chr.17: 58206544-58206544 on Build GRCh38
rs566204379 Chr.17: 58206547-58206547 on Build GRCh38
rs747438198 Chr.17: 58206402-58206402 on Build GRCh38
rs374195952 Chr.17: 58206407-58206407 on Build GRCh38
rs750522668 Chr.17: 58206480-58206480 on Build GRCh38
rs768814293 Chr.17: 58206447-58206448 on Build GRCh38
rs773748096 Chr.17: 58206429-58206429 on Build GRCh38
rs747100055 Chr.17: 58206446-58206447 on Build GRCh38
rs769442220 Chr.17: 58206520-58206520 on Build GRCh38
rs758937277 Chr.17: 58206491-58206491 on Build GRCh38
rs200026560 Chr.17: 58206531-58206531 on Build GRCh38
rs1003579700 Chr.17: 58206490-58206490 on Build GRCh38
rs1045585984 Chr.17: 58206421-58206421 on Build GRCh38
rs386834044 Chr.17: 58206501-58206502 on Build GRCh38
rs386834043 Chr.17: 58206554-58206582 on Build GRCh38
rs368525558 Chr.17: 58206408-58206408 on Build GRCh38
rs780931732 Chr.17: 58206452-58206452 on Build GRCh38
rs376833168 Chr.17: 58206476-58206476 on Build GRCh38
rs386834045 Chr.17: 58206465-58206465 on Build GRCh38
rs761944624 Chr.17: 58206478-58206478 on Build GRCh38
rs770548274 Chr.17: 58206525-58206525 on Build GRCh38
rs962001500 Chr.17: 58206510-58206510 on Build GRCh38
rs201076918 Chr.17: 58206447-58206447 on Build GRCh38
rs369380403 Chr.17: 58206508-58206508 on Build GRCh38
rs769707133 Chr.17: 58206459-58206466 on Build GRCh38
rs749737706 Chr.17: 58206553-58206581 on Build GRCh38
rs764000969 Chr.17: 58206468-58206468 on Build GRCh38
rs181513926 Chr.17: 58206541-58206541 on Build GRCh38
rs748099927 Chr.17: 58206457-58206457 on Build GRCh38
rs762989365 Chr.17: 58206562-58206562 on Build GRCh38
rs772114886 Chr.17: 58206540-58206540 on Build GRCh38
rs760595212 Chr.17: 58206450-58206450 on Build GRCh38
rs529604036 Chr.17: 58206532-58206532 on Build GRCh38
rs755297587 Chr.17: 58206518-58206518 on Build GRCh38
rs916562674 Chr.17: 58206489-58206489 on Build GRCh38
rs748929197 Chr.17: 58206422-58206422 on Build GRCh38
rs552287204 Chr.17: 58206551-58206551 on Build GRCh38
rs771972684 Chr.17: 58206437-58206437 on Build GRCh38
rs770411715 Chr.17: 58206427-58206427 on Build GRCh38
rs780576848 Chr.17: 58206497-58206497 on Build GRCh38
rs137853105 Chr.17: 58206479-58206479 on Build GRCh38
rs377033273 Chr.17: 58206550-58206550 on Build GRCh38

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