Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58206880-58207376 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
4151686 c.1298C>T p.T433M Chr.17: 58207194-58207194 on Build GRCh38
3195114 c.1322C>T p.T441M Chr.17: 58207170-58207170 on Build GRCh38
5903154 c.1358C>T p.S453F Chr.17: 58207134-58207134 on Build GRCh38
6386879 c.1294T>C p.S432P Chr.17: 58207198-58207198 on Build GRCh38
4068089 c.1405A>G p.K469E Chr.17: 58207087-58207087 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs952330753 Chr.17: 58207301-58207301 on Build GRCh38
rs770031784 Chr.17: 58207082-58207082 on Build GRCh38
rs865870355 Chr.17: 58207098-58207098 on Build GRCh38
rs749503564 Chr.17: 58207193-58207193 on Build GRCh38
rs200865108 Chr.17: 58207143-58207143 on Build GRCh38
rs569499621 Chr.17: 58207166-58207166 on Build GRCh38
rs757940223 Chr.17: 58207048-58207048 on Build GRCh38
rs148473425 Chr.17: 58207064-58207064 on Build GRCh38
rs1002549742 Chr.17: 58207248-58207248 on Build GRCh38
rs896592233 Chr.17: 58206904-58206904 on Build GRCh38
rs368032467 Chr.17: 58206973-58206973 on Build GRCh38
rs760032525 Chr.17: 58207113-58207113 on Build GRCh38
rs774384333 Chr.17: 58207197-58207197 on Build GRCh38
rs730882120 Chr.17: 58207110-58207110 on Build GRCh38
rs147180861 Chr.17: 58207346-58207346 on Build GRCh38
rs1007814770 Chr.17: 58207187-58207187 on Build GRCh38
rs1035089437 Chr.17: 58206902-58206902 on Build GRCh38
rs527325759 Chr.17: 58207003-58207003 on Build GRCh38
rs201182520 Chr.17: 58207056-58207056 on Build GRCh38
rs1024298383 Chr.17: 58207095-58207095 on Build GRCh38
rs773269657 Chr.17: 58207103-58207103 on Build GRCh38
rs779697924 Chr.17: 58207152-58207152 on Build GRCh38
rs529961927 Chr.17: 58206910-58206910 on Build GRCh38
rs754486075 Chr.17: 58207234-58207234 on Build GRCh38
rs555977738 Chr.17: 58207205-58207205 on Build GRCh38
rs960833305 Chr.17: 58207068-58207068 on Build GRCh38
rs768768368 Chr.17: 58207057-58207057 on Build GRCh38
rs774080859 Chr.17: 58207060-58207065 on Build GRCh38
rs759662552 Chr.17: 58207198-58207198 on Build GRCh38
rs746581223 Chr.17: 58207160-58207160 on Build GRCh38
rs754930606 Chr.17: 58207167-58207167 on Build GRCh38
rs367625961 Chr.17: 58207170-58207170 on Build GRCh38
rs1011651329 Chr.17: 58206963-58206963 on Build GRCh38
rs931815149 Chr.17: 58207186-58207186 on Build GRCh38
rs1035434660 Chr.17: 58207263-58207263 on Build GRCh38
rs753085014 Chr.17: 58207136-58207136 on Build GRCh38
rs773075697 Chr.17: 58207174-58207174 on Build GRCh38
rs751088795 Chr.17: 58207228-58207228 on Build GRCh38
rs574321337 Chr.17: 58207291-58207291 on Build GRCh38
rs1006445100 Chr.17: 58207317-58207317 on Build GRCh38
rs780760589 Chr.17: 58207236-58207236 on Build GRCh38
rs781038098 Chr.17: 58207169-58207169 on Build GRCh38
rs1023826519 Chr.17: 58207287-58207287 on Build GRCh38
rs199927741 Chr.17: 58207129-58207129 on Build GRCh38
rs894262559 Chr.17: 58207266-58207266 on Build GRCh38
rs774475723 Chr.17: 58207109-58207109 on Build GRCh38
rs375457669 Chr.17: 58207268-58207268 on Build GRCh38
rs745444981 Chr.17: 58207350-58207358 on Build GRCh38
rs991023855 Chr.17: 58207075-58207075 on Build GRCh38
rs141741656 Chr.17: 58207213-58207213 on Build GRCh38
rs386834042 Chr.17: 58207083-58207083 on Build GRCh38
rs771120203 Chr.17: 58207251-58207251 on Build GRCh38
rs966141528 Chr.17: 58206929-58206929 on Build GRCh38
rs548109601 Chr.17: 58206997-58206997 on Build GRCh38
rs988261202 Chr.17: 58207290-58207290 on Build GRCh38
rs9913536 Chr.17: 58206998-58206998 on Build GRCh38
rs779059435 Chr.17: 58207253-58207253 on Build GRCh38
rs201619500 Chr.17: 58207104-58207104 on Build GRCh38
rs755841031 Chr.17: 58207194-58207194 on Build GRCh38
rs752522192 Chr.17: 58207240-58207240 on Build GRCh38
rs555342757 Chr.17: 58207295-58207295 on Build GRCh38
rs370995006 Chr.17: 58207247-58207247 on Build GRCh38
rs754258143 Chr.17: 58207305-58207305 on Build GRCh38
rs976488634 Chr.17: 58206958-58206958 on Build GRCh38
rs377033778 Chr.17: 58207222-58207222 on Build GRCh38
rs764549118 Chr.17: 58207139-58207139 on Build GRCh38
rs747931678 Chr.17: 58207066-58207066 on Build GRCh38
rs756138455 Chr.17: 58207246-58207246 on Build GRCh38
rs893093602 Chr.17: 58206918-58206918 on Build GRCh38
rs902915761 Chr.17: 58207016-58207016 on Build GRCh38
rs761247194 Chr.17: 58207208-58207208 on Build GRCh38
rs373382151 Chr.17: 58207136-58207137 on Build GRCh38
rs538819956 Chr.17: 58207138-58207138 on Build GRCh38
rs766392300 Chr.17: 58207105-58207105 on Build GRCh38
rs1015598859 Chr.17: 58207332-58207332 on Build GRCh38
rs886043544 Chr.17: 58207183-58207183 on Build GRCh38
rs1002602328 Chr.17: 58207044-58207044 on Build GRCh38

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