Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58207757-58208344 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
317629 c.1176G>A p.P392P Chr.17: 58207991-58207991 on Build GRCh38
6446209 c.1199A>T p.E400V Chr.17: 58207968-58207968 on Build GRCh38
6488514 c.1166-1G>T p.? Chr.17: 58208002-58208002 on Build GRCh38
5106438 c.1131delT p.F377fs*53 Chr.17: 58208139-58208139 on Build GRCh38
7377219 c.1232G>C p.R411P Chr.17: 58207935-58207935 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs985013363 Chr.17: 58208161-58208161 on Build GRCh38
rs202243317 Chr.17: 58207851-58207851 on Build GRCh38
rs777722326 Chr.17: 58208229-58208229 on Build GRCh38
rs755065589 Chr.17: 58207940-58207940 on Build GRCh38
rs200350173 Chr.17: 58208143-58208143 on Build GRCh38
rs144764478 Chr.17: 58207971-58207971 on Build GRCh38
rs950609840 Chr.17: 58208157-58208157 on Build GRCh38
rs771262017 Chr.17: 58208126-58208126 on Build GRCh38
rs762439479 Chr.17: 58207882-58207882 on Build GRCh38
rs752322351 Chr.17: 58207830-58207830 on Build GRCh38
rs369141016 Chr.17: 58208142-58208142 on Build GRCh38
rs1013247061 Chr.17: 58208310-58208310 on Build GRCh38
rs760184188 Chr.17: 58207899-58207899 on Build GRCh38
rs770815807 Chr.17: 58208286-58208286 on Build GRCh38
rs774840755 Chr.17: 58207894-58207894 on Build GRCh38
rs863225210 Chr.17: 58207906-58207906 on Build GRCh38
rs781423785 Chr.17: 58207945-58207945 on Build GRCh38
rs1007977525 Chr.17: 58207998-58207998 on Build GRCh38
rs186068330 Chr.17: 58208206-58208206 on Build GRCh38
rs201128765 Chr.17: 58207934-58207934 on Build GRCh38
rs371480628 Chr.17: 58207888-58207888 on Build GRCh38
rs754279998 Chr.17: 58208153-58208155 on Build GRCh38
rs779329115 Chr.17: 58208251-58208251 on Build GRCh38
rs777737965 Chr.17: 58207844-58207844 on Build GRCh38
rs377434244 Chr.17: 58208216-58208216 on Build GRCh38
rs765198974 Chr.17: 58208029-58208029 on Build GRCh38
rs765002709 Chr.17: 58207923-58207923 on Build GRCh38
rs543945391 Chr.17: 58208281-58208281 on Build GRCh38
rs16942826 Chr.17: 58207883-58207883 on Build GRCh38
rs781419863 Chr.17: 58208063-58208063 on Build GRCh38
rs878989068 Chr.17: 58208171-58208171 on Build GRCh38
rs757760794 Chr.17: 58208234-58208234 on Build GRCh38
rs16942829 Chr.17: 58208217-58208217 on Build GRCh38
rs886044314 Chr.17: 58208150-58208150 on Build GRCh38
rs755974896 Chr.17: 58207835-58207835 on Build GRCh38
rs753796681 Chr.17: 58207845-58207845 on Build GRCh38
rs773684291 Chr.17: 58207959-58207959 on Build GRCh38
rs758918957 Chr.17: 58207950-58207950 on Build GRCh38
rs763534380 Chr.17: 58207992-58207992 on Build GRCh38
rs766116551 Chr.17: 58208046-58208046 on Build GRCh38
rs762945519 Chr.17: 58208283-58208283 on Build GRCh38
rs560015253 Chr.17: 58207807-58207807 on Build GRCh38
rs556283042 Chr.17: 58208265-58208265 on Build GRCh38
rs1054859051 Chr.17: 58208298-58208298 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
rs200679238 Chr.17: 58207935-58207935 on Build GRCh38
rs758159899 Chr.17: 58208037-58208037 on Build GRCh38
rs989050644 Chr.17: 58208241-58208241 on Build GRCh38
rs986206136 Chr.17: 58207831-58207831 on Build GRCh38
rs587777804 Chr.17: 58208156-58208158 on Build GRCh38
rs776174898 Chr.17: 58208002-58208002 on Build GRCh38
rs763627565 Chr.17: 58207900-58207900 on Build GRCh38
rs775169308 Chr.17: 58207991-58207991 on Build GRCh38
rs756671420 Chr.17: 58208068-58208068 on Build GRCh38
rs372792674 Chr.17: 58207828-58207828 on Build GRCh38
rs770493819 Chr.17: 58207958-58207958 on Build GRCh38
rs933500901 Chr.17: 58208308-58208308 on Build GRCh38
rs767456088 Chr.17: 58208297-58208297 on Build GRCh38
rs372886368 Chr.17: 58208193-58208193 on Build GRCh38
rs768271638 Chr.17: 58208256-58208256 on Build GRCh38
rs780773545 Chr.17: 58208258-58208258 on Build GRCh38
rs748281939 Chr.17: 58208066-58208066 on Build GRCh38
rs757678829 Chr.17: 58208254-58208254 on Build GRCh38
rs772818256 Chr.17: 58207898-58207898 on Build GRCh38
rs202040080 Chr.17: 58207961-58207961 on Build GRCh38
rs797045705 Chr.17: 58208112-58208112 on Build GRCh38
rs1051927958 Chr.17: 58208321-58208321 on Build GRCh38
rs372554696 Chr.17: 58207954-58207954 on Build GRCh38
rs762800635 Chr.17: 58208168-58208168 on Build GRCh38
rs147899368 Chr.17: 58208272-58208272 on Build GRCh38
rs774595103 Chr.17: 58208132-58208132 on Build GRCh38
rs527249169 Chr.17: 58207827-58207827 on Build GRCh38
rs767070336 Chr.17: 58208141-58208166 on Build GRCh38
rs1033351230 Chr.17: 58208021-58208021 on Build GRCh38
rs769017468 Chr.17: 58207874-58207874 on Build GRCh38
rs913455167 Chr.17: 58208245-58208245 on Build GRCh38
rs751213678 Chr.17: 58207825-58207825 on Build GRCh38
rs775089489 Chr.17: 58208078-58208078 on Build GRCh38
rs117007334 Chr.17: 58207855-58207855 on Build GRCh38
rs746657618 Chr.17: 58208133-58208133 on Build GRCh38
rs751734406 Chr.17: 58208055-58208055 on Build GRCh38
rs969235177 Chr.17: 58208100-58208100 on Build GRCh38
rs778294008 Chr.17: 58208084-58208084 on Build GRCh38
rs933577333 Chr.17: 58207893-58207893 on Build GRCh38
rs374829511 Chr.17: 58207864-58207864 on Build GRCh38
rs373004412 Chr.17: 58208001-58208001 on Build GRCh38
rs201036775 Chr.17: 58207936-58207936 on Build GRCh38
rs1026260392 Chr.17: 58208314-58208314 on Build GRCh38
rs777226399 Chr.17: 58207875-58207875 on Build GRCh38
rs765715379 Chr.17: 58207821-58207821 on Build GRCh38
rs761733134 Chr.17: 58208022-58208022 on Build GRCh38
rs766137727 Chr.17: 58208184-58208184 on Build GRCh38
rs746031692 Chr.17: 58207853-58207853 on Build GRCh38
rs756226043 Chr.17: 58208226-58208226 on Build GRCh38
rs181366213 Chr.17: 58207850-58207850 on Build GRCh38
rs754093078 Chr.17: 58208222-58208222 on Build GRCh38
rs541714339 Chr.17: 58207804-58207804 on Build GRCh38
rs948410511 Chr.17: 58208213-58208213 on Build GRCh38
rs774267957 Chr.17: 58207938-58207938 on Build GRCh38
rs375171206 Chr.17: 58208104-58208104 on Build GRCh38
rs968544204 Chr.17: 58207849-58207849 on Build GRCh38
rs372134300 Chr.17: 58207858-58207858 on Build GRCh38
rs569463908 Chr.17: 58207887-58207887 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
rs889084910 Chr.17: 58207985-58207985 on Build GRCh38
rs749099410 Chr.17: 58207907-58207907 on Build GRCh38
rs948397956 Chr.17: 58207890-58207890 on Build GRCh38
rs886053169 Chr.17: 58207914-58207914 on Build GRCh38
rs759356276 Chr.17: 58208295-58208295 on Build GRCh38
rs755312509 Chr.17: 58208057-58208057 on Build GRCh38

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