Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58205944-58206215 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
78990 c.1642C>T p.Q548* Chr.17: 58206117-58206117 on Build GRCh38
3691704 c.1609C>T p.R537C Chr.17: 58206150-58206150 on Build GRCh38
6081358 c.1607G>T p.R536L Chr.17: 58206152-58206152 on Build GRCh38
5741064 c.1597C>T p.R533C Chr.17: 58206162-58206162 on Build GRCh38
5077789 c.1627C>A p.R543R Chr.17: 58206132-58206132 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs748406509 Chr.17: 58206132-58206132 on Build GRCh38
rs752901746 Chr.17: 58206173-58206173 on Build GRCh38
rs771585740 Chr.17: 58206119-58206119 on Build GRCh38
rs746283445 Chr.17: 58206152-58206152 on Build GRCh38
rs566239288 Chr.17: 58206052-58206052 on Build GRCh38
rs35184412 Chr.17: 58206004-58206004 on Build GRCh38
rs545364645 Chr.17: 58206124-58206124 on Build GRCh38
rs771624307 Chr.17: 58206149-58206149 on Build GRCh38
rs377376912 Chr.17: 58206182-58206182 on Build GRCh38
rs774792843 Chr.17: 58206076-58206076 on Build GRCh38
rs972224115 Chr.17: 58206003-58206003 on Build GRCh38
rs942354453 Chr.17: 58206053-58206053 on Build GRCh38
rs921675582 Chr.17: 58206082-58206082 on Build GRCh38
rs11548967 Chr.17: 58206088-58206088 on Build GRCh38
rs768171144 Chr.17: 58206153-58206153 on Build GRCh38
rs35384582 Chr.17: 58206021-58206021 on Build GRCh38
rs371962780 Chr.17: 58206030-58206030 on Build GRCh38
rs369146407 Chr.17: 58206036-58206036 on Build GRCh38
rs757672989 Chr.17: 58206189-58206189 on Build GRCh38
rs763587314 Chr.17: 58206068-58206068 on Build GRCh38
rs767250536 Chr.17: 58206169-58206169 on Build GRCh38
rs761483576 Chr.17: 58206157-58206157 on Build GRCh38
rs915370426 Chr.17: 58206102-58206102 on Build GRCh38
rs777988877 Chr.17: 58206181-58206181 on Build GRCh38
rs34092089 Chr.17: 58206106-58206106 on Build GRCh38
rs35493987 Chr.17: 58206154-58206154 on Build GRCh38
rs751294519 Chr.17: 58206167-58206167 on Build GRCh38
rs764747820 Chr.17: 58206098-58206098 on Build GRCh38
rs745946583 Chr.17: 58206162-58206162 on Build GRCh38
rs781530535 Chr.17: 58206130-58206130 on Build GRCh38
rs750643227 Chr.17: 58206172-58206173 on Build GRCh38
rs928205108 Chr.17: 58206140-58206140 on Build GRCh38
rs34304018 Chr.17: 58206041-58206041 on Build GRCh38
rs773809071 Chr.17: 58206037-58206037 on Build GRCh38
rs771356715 Chr.17: 58206069-58206069 on Build GRCh38
rs779093781 Chr.17: 58206161-58206161 on Build GRCh38
rs755128244 Chr.17: 58206125-58206125 on Build GRCh38
rs568504276 Chr.17: 58205983-58205983 on Build GRCh38
rs751425104 Chr.17: 58206120-58206120 on Build GRCh38
rs267604965 Chr.17: 58206139-58206139 on Build GRCh38
rs550885201 Chr.17: 58205982-58205982 on Build GRCh38
rs34631184 Chr.17: 58206147-58206147 on Build GRCh38
rs35464956 Chr.17: 58206150-58206150 on Build GRCh38
rs557678962 Chr.17: 58206146-58206146 on Build GRCh38
rs863225207 Chr.17: 58206172-58206172 on Build GRCh38
rs758334200 Chr.17: 58206118-58206118 on Build GRCh38
rs199910690 Chr.17: 58206158-58206158 on Build GRCh38
rs376925280 Chr.17: 58206085-58206085 on Build GRCh38
rs553314050 Chr.17: 58206091-58206091 on Build GRCh38
rs756418206 Chr.17: 58206177-58206177 on Build GRCh38
rs965966669 Chr.17: 58206166-58206166 on Build GRCh38
rs772719574 Chr.17: 58206159-58206159 on Build GRCh38
rs865938889 Chr.17: 58206176-58206176 on Build GRCh38

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