Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58206158-58206417 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
6713177 c.1529G>A p.R510Q Chr.17: 58206342-58206342 on Build GRCh38
5741064 c.1597C>T p.R533C Chr.17: 58206162-58206162 on Build GRCh38
7377221 c.1582G>A p.V528M Chr.17: 58206289-58206289 on Build GRCh38
6523739 c.1498A>T p.M500L Chr.17: 58206373-58206373 on Build GRCh38
4817133 c.1530G>C p.R510R Chr.17: 58206341-58206341 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs373843986 Chr.17: 58206342-58206342 on Build GRCh38
rs775833435 Chr.17: 58206237-58206237 on Build GRCh38
rs886038203 Chr.17: 58206382-58206382 on Build GRCh38
rs377376912 Chr.17: 58206182-58206182 on Build GRCh38
rs863225204 Chr.17: 58206342-58206343 on Build GRCh38
rs368535131 Chr.17: 58206365-58206365 on Build GRCh38
rs772441460 Chr.17: 58206215-58206215 on Build GRCh38
rs774309110 Chr.17: 58206291-58206291 on Build GRCh38
rs769492248 Chr.17: 58206267-58206267 on Build GRCh38
rs540747512 Chr.17: 58206280-58206280 on Build GRCh38
rs758677316 Chr.17: 58206273-58206273 on Build GRCh38
rs775558298 Chr.17: 58206328-58206328 on Build GRCh38
rs528617147 Chr.17: 58206228-58206228 on Build GRCh38
rs757672989 Chr.17: 58206189-58206189 on Build GRCh38
rs759400183 Chr.17: 58206300-58206300 on Build GRCh38
rs200658872 Chr.17: 58206327-58206327 on Build GRCh38
rs758838271 Chr.17: 58206366-58206366 on Build GRCh38
rs767285168 Chr.17: 58206318-58206318 on Build GRCh38
rs747736711 Chr.17: 58206245-58206245 on Build GRCh38
rs202005799 Chr.17: 58206205-58206205 on Build GRCh38
rs910963522 Chr.17: 58206298-58206298 on Build GRCh38
rs144635826 Chr.17: 58206373-58206373 on Build GRCh38
rs370130538 Chr.17: 58206337-58206337 on Build GRCh38
rs779522155 Chr.17: 58206191-58206191 on Build GRCh38
rs780161503 Chr.17: 58206374-58206374 on Build GRCh38
rs762501967 Chr.17: 58206271-58206271 on Build GRCh38
rs370410804 Chr.17: 58206200-58206200 on Build GRCh38
rs777988877 Chr.17: 58206181-58206181 on Build GRCh38
rs912989184 Chr.17: 58206265-58206265 on Build GRCh38
rs778890248 Chr.17: 58206346-58206346 on Build GRCh38
rs757310695 Chr.17: 58206343-58206343 on Build GRCh38
rs756418206 Chr.17: 58206177-58206177 on Build GRCh38
rs1052263756 Chr.17: 58206348-58206348 on Build GRCh38
rs886038204 Chr.17: 58206282-58206282 on Build GRCh38
rs9906421 Chr.17: 58206340-58206340 on Build GRCh38
rs868150273 Chr.17: 58206359-58206359 on Build GRCh38

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