Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58212093-58212584 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_011524960.2 XM_017024803.1 XM_017024804.1 XM_017024805.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3820059 c.883C>T p.L295F Chr.17: 58212410-58212410 on Build GRCh38
6713183 c.870G>A p.R290R Chr.17: 58212423-58212423 on Build GRCh38
1215150 c.895G>A p.V299I Chr.17: 58212398-58212398 on Build GRCh38
1384670 c.868C>T p.R290W Chr.17: 58212425-58212425 on Build GRCh38
7111735 c.910G>C p.E304Q Chr.17: 58212383-58212383 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs780806543 Chr.17: 58212278-58212278 on Build GRCh38
rs755916212 Chr.17: 58212434-58212434 on Build GRCh38
rs200080801 Chr.17: 58212359-58212359 on Build GRCh38
rs564970394 Chr.17: 58212341-58212341 on Build GRCh38
rs769599971 Chr.17: 58212334-58212334 on Build GRCh38
rs899790127 Chr.17: 58212290-58212290 on Build GRCh38
rs931474911 Chr.17: 58212186-58212186 on Build GRCh38
rs751146857 Chr.17: 58212398-58212398 on Build GRCh38
rs1009391731 Chr.17: 58212333-58212333 on Build GRCh38
rs938347559 Chr.17: 58212234-58212234 on Build GRCh38
rs367870128 Chr.17: 58212482-58212482 on Build GRCh38
rs1048216702 Chr.17: 58212307-58212307 on Build GRCh38
rs750025608 Chr.17: 58212389-58212389 on Build GRCh38
rs756831434 Chr.17: 58212275-58212275 on Build GRCh38
rs748014480 Chr.17: 58212331-58212331 on Build GRCh38
rs3213698 Chr.17: 58212184-58212184 on Build GRCh38
rs928305916 Chr.17: 58212192-58212192 on Build GRCh38
rs780969101 Chr.17: 58212305-58212305 on Build GRCh38
rs746939433 Chr.17: 58212210-58212210 on Build GRCh38
rs765793774 Chr.17: 58212397-58212397 on Build GRCh38
rs765611381 Chr.17: 58212443-58212444 on Build GRCh38
rs897068704 Chr.17: 58212259-58212259 on Build GRCh38
rs774551789 Chr.17: 58212353-58212353 on Build GRCh38
rs764581050 Chr.17: 58212384-58212384 on Build GRCh38
rs142805406 Chr.17: 58212390-58212390 on Build GRCh38
rs777558323 Chr.17: 58212425-58212425 on Build GRCh38
rs763163515 Chr.17: 58212273-58212273 on Build GRCh38
rs978776999 Chr.17: 58212153-58212153 on Build GRCh38
rs78774579 Chr.17: 58212401-58212401 on Build GRCh38
rs531965485 Chr.17: 58212503-58212503 on Build GRCh38
rs781136688 Chr.17: 58212408-58212408 on Build GRCh38
rs370957574 Chr.17: 58212466-58212466 on Build GRCh38
rs372947580 Chr.17: 58212315-58212315 on Build GRCh38
rs950498454 Chr.17: 58212459-58212459 on Build GRCh38
rs989637412 Chr.17: 58212163-58212163 on Build GRCh38
rs550188753 Chr.17: 58212521-58212521 on Build GRCh38
rs749516090 Chr.17: 58212344-58212344 on Build GRCh38
rs908690670 Chr.17: 58212480-58212480 on Build GRCh38
rs775697787 Chr.17: 58212368-58212368 on Build GRCh38
rs908781453 Chr.17: 58212261-58212261 on Build GRCh38
rs749501841 Chr.17: 58212437-58212437 on Build GRCh38
rs1044147911 Chr.17: 58212185-58212185 on Build GRCh38
rs769489826 Chr.17: 58212423-58212423 on Build GRCh38
rs1037379899 Chr.17: 58212239-58212239 on Build GRCh38
rs944265254 Chr.17: 58212268-58212268 on Build GRCh38
rs116573488 Chr.17: 58212136-58212136 on Build GRCh38
rs770940294 Chr.17: 58212348-58212348 on Build GRCh38
rs958486126 Chr.17: 58212160-58212160 on Build GRCh38
rs1019591595 Chr.17: 58212120-58212120 on Build GRCh38
rs944220664 Chr.17: 58212528-58212528 on Build GRCh38
rs879233740 Chr.17: 58212565-58212565 on Build GRCh38
rs780843782 Chr.17: 58212327-58212327 on Build GRCh38
rs148524932 Chr.17: 58212274-58212274 on Build GRCh38
rs924196370 Chr.17: 58212157-58212157 on Build GRCh38
rs996863158 Chr.17: 58212323-58212323 on Build GRCh38
rs747676448 Chr.17: 58212357-58212357 on Build GRCh38
rs761070122 Chr.17: 58212378-58212378 on Build GRCh38
rs201845569 Chr.17: 58212419-58212419 on Build GRCh38
rs3217067 Chr.17: 58212357-58212359 on Build GRCh38
rs755840522 Chr.17: 58212424-58212424 on Build GRCh38
rs754839039 Chr.17: 58212399-58212399 on Build GRCh38

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