Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58208014-58208513 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
5104950 c.1095+1G>A p.? Chr.17: 58208512-58208512 on Build GRCh38
5981257 c.1125C>A p.F375L Chr.17: 58208145-58208145 on Build GRCh38
5106438 c.1131delT p.F377fs*53 Chr.17: 58208139-58208139 on Build GRCh38
5104951 c.1095+1G>A p.? Chr.17: 58208512-58208512 on Build GRCh38
5106439 c.1131delT p.F377fs*53 Chr.17: 58208139-58208139 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs985013363 Chr.17: 58208161-58208161 on Build GRCh38
rs777722326 Chr.17: 58208229-58208229 on Build GRCh38
rs200350173 Chr.17: 58208143-58208143 on Build GRCh38
rs913516438 Chr.17: 58208425-58208425 on Build GRCh38
rs572324645 Chr.17: 58208364-58208364 on Build GRCh38
rs1030358758 Chr.17: 58208387-58208387 on Build GRCh38
rs553746640 Chr.17: 58208357-58208357 on Build GRCh38
rs756671420 Chr.17: 58208068-58208068 on Build GRCh38
rs933500901 Chr.17: 58208308-58208308 on Build GRCh38
rs767456088 Chr.17: 58208297-58208297 on Build GRCh38
rs950609840 Chr.17: 58208157-58208157 on Build GRCh38
rs771262017 Chr.17: 58208126-58208126 on Build GRCh38
rs372886368 Chr.17: 58208193-58208193 on Build GRCh38
rs768271638 Chr.17: 58208256-58208256 on Build GRCh38
rs369141016 Chr.17: 58208142-58208142 on Build GRCh38
rs1013247061 Chr.17: 58208310-58208310 on Build GRCh38
rs190934253 Chr.17: 58208388-58208388 on Build GRCh38
rs999314413 Chr.17: 58208396-58208396 on Build GRCh38
rs780773545 Chr.17: 58208258-58208258 on Build GRCh38
rs752903974 Chr.17: 58208462-58208462 on Build GRCh38
rs748281939 Chr.17: 58208066-58208066 on Build GRCh38
rs770815807 Chr.17: 58208286-58208286 on Build GRCh38
rs545804898 Chr.17: 58208368-58208368 on Build GRCh38
rs757678829 Chr.17: 58208254-58208254 on Build GRCh38
rs797045705 Chr.17: 58208112-58208112 on Build GRCh38
rs1051927958 Chr.17: 58208321-58208321 on Build GRCh38
rs762800635 Chr.17: 58208168-58208168 on Build GRCh38
rs777345651 Chr.17: 58208328-58208328 on Build GRCh38
rs201645187 Chr.17: 58208483-58208483 on Build GRCh38
rs147899368 Chr.17: 58208272-58208272 on Build GRCh38
rs774595103 Chr.17: 58208132-58208132 on Build GRCh38
rs767070336 Chr.17: 58208141-58208166 on Build GRCh38
rs186068330 Chr.17: 58208206-58208206 on Build GRCh38
rs913455167 Chr.17: 58208245-58208245 on Build GRCh38
rs760994474 Chr.17: 58208473-58208473 on Build GRCh38
rs775089489 Chr.17: 58208078-58208078 on Build GRCh38
rs889407002 Chr.17: 58208333-58208333 on Build GRCh38
rs754279998 Chr.17: 58208153-58208155 on Build GRCh38
rs751734406 Chr.17: 58208055-58208055 on Build GRCh38
rs779329115 Chr.17: 58208251-58208251 on Build GRCh38
rs746657618 Chr.17: 58208133-58208133 on Build GRCh38
rs969235177 Chr.17: 58208100-58208100 on Build GRCh38
rs778294008 Chr.17: 58208084-58208084 on Build GRCh38
rs377434244 Chr.17: 58208216-58208216 on Build GRCh38
rs1006088772 Chr.17: 58208351-58208351 on Build GRCh38
rs1031767634 Chr.17: 58208400-58208400 on Build GRCh38
rs753930330 Chr.17: 58208481-58208481 on Build GRCh38
rs1026260392 Chr.17: 58208314-58208314 on Build GRCh38
rs543945391 Chr.17: 58208281-58208281 on Build GRCh38
rs964553590 Chr.17: 58208379-58208379 on Build GRCh38
rs766137727 Chr.17: 58208184-58208184 on Build GRCh38
rs878989068 Chr.17: 58208171-58208171 on Build GRCh38
rs781419863 Chr.17: 58208063-58208063 on Build GRCh38
rs756226043 Chr.17: 58208226-58208226 on Build GRCh38
rs754093078 Chr.17: 58208222-58208222 on Build GRCh38
rs757760794 Chr.17: 58208234-58208234 on Build GRCh38
rs16942829 Chr.17: 58208217-58208217 on Build GRCh38
rs948410511 Chr.17: 58208213-58208213 on Build GRCh38
rs527377020 Chr.17: 58208426-58208426 on Build GRCh38
rs375171206 Chr.17: 58208104-58208104 on Build GRCh38
rs886044314 Chr.17: 58208150-58208150 on Build GRCh38
rs77365082 Chr.17: 58208136-58208136 on Build GRCh38
rs773157492 Chr.17: 58208149-58208149 on Build GRCh38
rs769312467 Chr.17: 58208147-58208147 on Build GRCh38
rs766917347 Chr.17: 58208036-58208036 on Build GRCh38
rs992699544 Chr.17: 58208450-58208450 on Build GRCh38
rs988768260 Chr.17: 58208405-58208405 on Build GRCh38
rs766116551 Chr.17: 58208046-58208046 on Build GRCh38
rs199580974 Chr.17: 58208477-58208477 on Build GRCh38
rs762945519 Chr.17: 58208283-58208283 on Build GRCh38
rs1054859051 Chr.17: 58208298-58208298 on Build GRCh38
rs556283042 Chr.17: 58208265-58208265 on Build GRCh38
rs541630246 Chr.17: 58208289-58208289 on Build GRCh38
rs754315432 Chr.17: 58208233-58208233 on Build GRCh38
rs1013529524 Chr.17: 58208051-58208051 on Build GRCh38
rs974811403 Chr.17: 58208386-58208386 on Build GRCh38
rs758159899 Chr.17: 58208037-58208037 on Build GRCh38
rs989050644 Chr.17: 58208241-58208241 on Build GRCh38
rs587777804 Chr.17: 58208156-58208158 on Build GRCh38
rs759356276 Chr.17: 58208295-58208295 on Build GRCh38
rs755312509 Chr.17: 58208057-58208057 on Build GRCh38

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