Product Details

Primer Sequences
Log in to view
Primer Chromosome Location
Chr.17: 58210838-58211346 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
5853071 c.917C>T p.T306I Chr.17: 58211021-58211021 on Build GRCh38
1662773 c.919G>T p.V307F Chr.17: 58211019-58211019 on Build GRCh38
1662774 c.919G>T p.V307F Chr.17: 58211019-58211019 on Build GRCh38
4068095 c.916-2A>G p.? Chr.17: 58211024-58211024 on Build GRCh38
7161284 c.924A>C p.P308P Chr.17: 58211014-58211014 on Build GRCh38
View More

SNP Detail

SNP ID Chromosome Location
rs376094518 Chr.17: 58211063-58211063 on Build GRCh38
rs369322470 Chr.17: 58211068-58211068 on Build GRCh38
rs373269341 Chr.17: 58211020-58211020 on Build GRCh38
rs375090244 Chr.17: 58210967-58210967 on Build GRCh38
rs975686873 Chr.17: 58211173-58211173 on Build GRCh38
rs372290055 Chr.17: 58210959-58210959 on Build GRCh38
rs771030303 Chr.17: 58210994-58210994 on Build GRCh38
rs753378590 Chr.17: 58210929-58210929 on Build GRCh38
rs1025575798 Chr.17: 58211105-58211105 on Build GRCh38
rs1046142439 Chr.17: 58211311-58211311 on Build GRCh38
rs904973107 Chr.17: 58211313-58211313 on Build GRCh38
rs995447974 Chr.17: 58211087-58211087 on Build GRCh38
rs763367435 Chr.17: 58211273-58211273 on Build GRCh38
rs750119538 Chr.17: 58211032-58211032 on Build GRCh38
rs765028851 Chr.17: 58211028-58211028 on Build GRCh38
rs971240678 Chr.17: 58211135-58211135 on Build GRCh38
rs386834053 Chr.17: 58210980-58210980 on Build GRCh38
rs374962398 Chr.17: 58210953-58210953 on Build GRCh38
rs963318482 Chr.17: 58211086-58211086 on Build GRCh38
rs767763740 Chr.17: 58211004-58211004 on Build GRCh38
rs138090658 Chr.17: 58211208-58211208 on Build GRCh38
rs751394889 Chr.17: 58211071-58211071 on Build GRCh38
rs773657519 Chr.17: 58211252-58211252 on Build GRCh38
rs373716580 Chr.17: 58211257-58211257 on Build GRCh38
rs913544353 Chr.17: 58211240-58211240 on Build GRCh38
rs566299216 Chr.17: 58210952-58210952 on Build GRCh38
rs757938284 Chr.17: 58211049-58211049 on Build GRCh38
rs369483945 Chr.17: 58211003-58211003 on Build GRCh38
rs756996032 Chr.17: 58210939-58210939 on Build GRCh38
rs563817777 Chr.17: 58211225-58211225 on Build GRCh38
rs770067106 Chr.17: 58210981-58210981 on Build GRCh38
rs762973500 Chr.17: 58210985-58210985 on Build GRCh38
rs769809650 Chr.17: 58210913-58210913 on Build GRCh38
rs745409321 Chr.17: 58210943-58210943 on Build GRCh38
rs1022873588 Chr.17: 58211107-58211107 on Build GRCh38
rs774654581 Chr.17: 58210995-58210995 on Build GRCh38
rs746993312 Chr.17: 58210958-58210958 on Build GRCh38
rs919945889 Chr.17: 58211249-58211249 on Build GRCh38
rs963910018 Chr.17: 58211172-58211172 on Build GRCh38
rs797004592 Chr.17: 58211158-58211158 on Build GRCh38
rs863225208 Chr.17: 58210988-58210988 on Build GRCh38
rs1056389369 Chr.17: 58211317-58211317 on Build GRCh38
rs776327904 Chr.17: 58211141-58211141 on Build GRCh38
rs773255938 Chr.17: 58210984-58210984 on Build GRCh38
rs986812943 Chr.17: 58211152-58211152 on Build GRCh38
rs759960534 Chr.17: 58211269-58211269 on Build GRCh38
rs761505681 Chr.17: 58211190-58211190 on Build GRCh38
rs985705746 Chr.17: 58211306-58211306 on Build GRCh38
rs755000439 Chr.17: 58211073-58211073 on Build GRCh38
rs779710643 Chr.17: 58211056-58211056 on Build GRCh38
rs549230136 Chr.17: 58211314-58211314 on Build GRCh38
rs778564466 Chr.17: 58210942-58210942 on Build GRCh38
rs761528251 Chr.17: 58211022-58211022 on Build GRCh38
rs578190341 Chr.17: 58211159-58211159 on Build GRCh38

View Full Product Details