Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58212893-58213150 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
4068097 c.813C>T p.H271H Chr.17: 58213027-58213027 on Build GRCh38
3195133 c.811delC p.H271fs*29 Chr.17: 58213029-58213029 on Build GRCh38
3195135 c.795C>T p.I265I Chr.17: 58213045-58213045 on Build GRCh38
4920058 c.755A>G p.E252G Chr.17: 58213085-58213085 on Build GRCh38
4920057 c.755A>G p.E252G Chr.17: 58213085-58213085 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs367750788 Chr.17: 58212963-58212963 on Build GRCh38
rs982274478 Chr.17: 58212957-58212957 on Build GRCh38
rs553379675 Chr.17: 58212961-58212961 on Build GRCh38
rs863225209 Chr.17: 58213072-58213073 on Build GRCh38
rs3826300 Chr.17: 58212973-58212973 on Build GRCh38
rs983121973 Chr.17: 58212952-58212952 on Build GRCh38
rs760132386 Chr.17: 58213118-58213118 on Build GRCh38
rs780276924 Chr.17: 58213074-58213074 on Build GRCh38
rs1042487654 Chr.17: 58213089-58213089 on Build GRCh38
rs201771125 Chr.17: 58213029-58213029 on Build GRCh38
rs368858741 Chr.17: 58212956-58212956 on Build GRCh38
rs151023718 Chr.17: 58212983-58212983 on Build GRCh38
rs754944497 Chr.17: 58213131-58213132 on Build GRCh38
rs764943455 Chr.17: 58213044-58213044 on Build GRCh38
rs368774719 Chr.17: 58212976-58212976 on Build GRCh38
rs770088105 Chr.17: 58213019-58213019 on Build GRCh38
rs774964011 Chr.17: 58213117-58213117 on Build GRCh38
rs748670448 Chr.17: 58213078-58213078 on Build GRCh38
rs780100856 Chr.17: 58213005-58213006 on Build GRCh38
rs778058178 Chr.17: 58213082-58213082 on Build GRCh38
rs797045706 Chr.17: 58212996-58212996 on Build GRCh38
rs757032985 Chr.17: 58213040-58213040 on Build GRCh38
rs779149583 Chr.17: 58212987-58212987 on Build GRCh38
rs753798549 Chr.17: 58213039-58213039 on Build GRCh38
rs189255737 Chr.17: 58213005-58213005 on Build GRCh38
rs747519221 Chr.17: 58212954-58212954 on Build GRCh38
rs886038632 Chr.17: 58213069-58213069 on Build GRCh38
rs540456932 Chr.17: 58213112-58213112 on Build GRCh38
rs794727927 Chr.17: 58212998-58212998 on Build GRCh38
rs921504865 Chr.17: 58213015-58213015 on Build GRCh38
rs976973396 Chr.17: 58212993-58212993 on Build GRCh38
rs764069453 Chr.17: 58213036-58213036 on Build GRCh38
rs756102768 Chr.17: 58212981-58212981 on Build GRCh38
rs375557871 Chr.17: 58213018-58213018 on Build GRCh38
rs886044205 Chr.17: 58213026-58213026 on Build GRCh38
rs776022184 Chr.17: 58212945-58212945 on Build GRCh38
rs371630772 Chr.17: 58212941-58212941 on Build GRCh38
rs918270665 Chr.17: 58212975-58212975 on Build GRCh38
rs374203920 Chr.17: 58212943-58212943 on Build GRCh38
rs911132717 Chr.17: 58213008-58213008 on Build GRCh38
rs768189741 Chr.17: 58213120-58213120 on Build GRCh38
rs561482424 Chr.17: 58213049-58213049 on Build GRCh38
rs893790422 Chr.17: 58212937-58212937 on Build GRCh38
rs777191941 Chr.17: 58212958-58212958 on Build GRCh38
rs201961765 Chr.17: 58213027-58213027 on Build GRCh38
rs750597104 Chr.17: 58213045-58213045 on Build GRCh38
rs368751106 Chr.17: 58213031-58213031 on Build GRCh38
rs935450030 Chr.17: 58213034-58213034 on Build GRCh38
rs777103638 Chr.17: 58213017-58213017 on Build GRCh38
rs770140009 Chr.17: 58213081-58213081 on Build GRCh38
rs184444815 Chr.17: 58212995-58212995 on Build GRCh38
rs745531071 Chr.17: 58213083-58213083 on Build GRCh38
rs751818062 Chr.17: 58213074-58213074 on Build GRCh38
rs201237547 Chr.17: 58213077-58213077 on Build GRCh38
rs752574066 Chr.17: 58212977-58212977 on Build GRCh38
rs746105434 Chr.17: 58212991-58212991 on Build GRCh38
rs374489672 Chr.17: 58212974-58212974 on Build GRCh38
rs567771507 Chr.17: 58213035-58213035 on Build GRCh38
rs780007842 Chr.17: 58212999-58212999 on Build GRCh38
rs747504986 Chr.17: 58213004-58213004 on Build GRCh38
rs757400825 Chr.17: 58212985-58212985 on Build GRCh38

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