Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 58210592-58210817 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
6713178 c.1002C>A p.F334L Chr.17: 58210681-58210681 on Build GRCh38
6713179 c.1002C>A p.F334L Chr.17: 58210681-58210681 on Build GRCh38
3519998 c.1024C>T p.H342Y Chr.17: 58210659-58210659 on Build GRCh38
6081357 c.1009G>A p.E337K Chr.17: 58210674-58210674 on Build GRCh38
1303101 c.962C>T p.S321L Chr.17: 58210721-58210721 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs755259079 Chr.17: 58210735-58210735 on Build GRCh38
rs375732736 Chr.17: 58210789-58210789 on Build GRCh38
rs552668070 Chr.17: 58210690-58210690 on Build GRCh38
rs749001732 Chr.17: 58210649-58210649 on Build GRCh38
rs942536047 Chr.17: 58210797-58210797 on Build GRCh38
rs374632643 Chr.17: 58210646-58210646 on Build GRCh38
rs765577615 Chr.17: 58210679-58210681 on Build GRCh38
rs755769809 Chr.17: 58210620-58210620 on Build GRCh38
rs556641674 Chr.17: 58210747-58210747 on Build GRCh38
rs962738194 Chr.17: 58210663-58210663 on Build GRCh38
rs776673480 Chr.17: 58210712-58210712 on Build GRCh38
rs745789469 Chr.17: 58210674-58210674 on Build GRCh38
rs772205041 Chr.17: 58210676-58210676 on Build GRCh38
rs768515749 Chr.17: 58210706-58210706 on Build GRCh38
rs991364235 Chr.17: 58210709-58210709 on Build GRCh38
rs543650223 Chr.17: 58210794-58210794 on Build GRCh38
rs199874059 Chr.17: 58210658-58210658 on Build GRCh38
rs773337994 Chr.17: 58210731-58210731 on Build GRCh38
rs538316917 Chr.17: 58210733-58210733 on Build GRCh38
rs765242131 Chr.17: 58210729-58210729 on Build GRCh38
rs150287286 Chr.17: 58210614-58210614 on Build GRCh38
rs771845897 Chr.17: 58210643-58210643 on Build GRCh38
rs750835583 Chr.17: 58210740-58210740 on Build GRCh38
rs775391594 Chr.17: 58210689-58210689 on Build GRCh38
rs201998680 Chr.17: 58210669-58210669 on Build GRCh38
rs201137386 Chr.17: 58210728-58210728 on Build GRCh38
rs763444295 Chr.17: 58210732-58210732 on Build GRCh38

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