Product Details

Primer Sequences
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Primer Chromosome Location
Chr.9: 131513148-131513647 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
POMT1
Entrez Gene ID
10585
Gene Name
protein O-mannosyltransferase 1
Gene Aliases
LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
UniGene
Hs.522449
Gene Chromosome Location
Chr.9: 131502895-131523806 on Build GRCh38
Transcripts
NM_001077365.1 NM_001077366.1 NM_001136113.1 NM_001136114.1 NM_007171.3 XM_005272156.1 XM_005272158.1 XM_005272159.1 XM_005272162.2 XM_006716932.1 XM_011518140.1 XM_011518141.1 XM_011518142.1 XM_011518143.1 XM_011518145.1 XM_017014203.1 XM_017014204.1 XM_017014205.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6030333 c.1241C>T p.T414M Chr.9: 131513331-131513331 on Build GRCh38
5426757 c.1066A>G p.T356A Chr.9: 131513312-131513312 on Build GRCh38
3330056 c.1215C>T p.H405H Chr.9: 131513305-131513305 on Build GRCh38
6575426 c.1005G>A p.V335V Chr.9: 131513251-131513251 on Build GRCh38
246723 c.1241+1G>C p.? Chr.9: 131513332-131513332 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs890396848 Chr.9: 131513343-131513343 on Build GRCh38
rs138640226 Chr.9: 131513319-131513319 on Build GRCh38
rs369022978 Chr.9: 131513515-131513515 on Build GRCh38
rs372153033 Chr.9: 131513585-131513585 on Build GRCh38
rs890315656 Chr.9: 131513516-131513516 on Build GRCh38
rs201587241 Chr.9: 131513322-131513322 on Build GRCh38
rs35242383 Chr.9: 131513281-131513281 on Build GRCh38
rs761071293 Chr.9: 131513192-131513192 on Build GRCh38
rs146234177 Chr.9: 131513306-131513306 on Build GRCh38
rs141229412 Chr.9: 131513240-131513240 on Build GRCh38
rs377253951 Chr.9: 131513200-131513200 on Build GRCh38
rs781619064 Chr.9: 131513227-131513228 on Build GRCh38
rs202121299 Chr.9: 131513305-131513305 on Build GRCh38
rs1051679985 Chr.9: 131513332-131513332 on Build GRCh38
rs1021494409 Chr.9: 131513377-131513377 on Build GRCh38
rs77475870 Chr.9: 131513548-131513548 on Build GRCh38
rs914045945 Chr.9: 131513264-131513264 on Build GRCh38
rs761293717 Chr.9: 131513283-131513283 on Build GRCh38
rs982380952 Chr.9: 131513270-131513270 on Build GRCh38
rs572373571 Chr.9: 131513597-131513597 on Build GRCh38
rs982715419 Chr.9: 131513407-131513407 on Build GRCh38
rs778083412 Chr.9: 131513213-131513213 on Build GRCh38
rs757456152 Chr.9: 131513381-131513381 on Build GRCh38
rs755396234 Chr.9: 131513545-131513545 on Build GRCh38
rs890721252 Chr.9: 131513430-131513430 on Build GRCh38
rs766704009 Chr.9: 131513196-131513196 on Build GRCh38
rs768541831 Chr.9: 131513314-131513314 on Build GRCh38
rs912104903 Chr.9: 131513592-131513592 on Build GRCh38
rs769605615 Chr.9: 131513218-131513218 on Build GRCh38
rs146544829 Chr.9: 131513579-131513579 on Build GRCh38
rs748087053 Chr.9: 131513318-131513318 on Build GRCh38
rs146869947 Chr.9: 131513282-131513282 on Build GRCh38
rs1007455087 Chr.9: 131513521-131513521 on Build GRCh38
rs899522766 Chr.9: 131513465-131513465 on Build GRCh38
rs146945848 Chr.9: 131513272-131513272 on Build GRCh38
rs866663374 Chr.9: 131513506-131513506 on Build GRCh38
rs959591437 Chr.9: 131513428-131513428 on Build GRCh38
rs746359296 Chr.9: 131513289-131513289 on Build GRCh38
rs778791741 Chr.9: 131513316-131513316 on Build GRCh38
rs760306801 Chr.9: 131513329-131513329 on Build GRCh38
rs772900925 Chr.9: 131513259-131513259 on Build GRCh38
rs1015346366 Chr.9: 131513503-131513503 on Build GRCh38
rs376258733 Chr.9: 131513265-131513265 on Build GRCh38
rs941701813 Chr.9: 131513482-131513482 on Build GRCh38
rs747232936 Chr.9: 131513216-131513216 on Build GRCh38
rs764170781 Chr.9: 131513352-131513352 on Build GRCh38
rs766759606 Chr.9: 131513266-131513266 on Build GRCh38
rs751607860 Chr.9: 131513379-131513379 on Build GRCh38
rs549992033 Chr.9: 131513512-131513512 on Build GRCh38
rs543585316 Chr.9: 131513288-131513288 on Build GRCh38
rs886044066 Chr.9: 131513285-131513285 on Build GRCh38
rs373678001 Chr.9: 131513351-131513351 on Build GRCh38
rs144547065 Chr.9: 131513505-131513505 on Build GRCh38
rs374389106 Chr.9: 131513226-131513226 on Build GRCh38
rs372589429 Chr.9: 131513188-131513188 on Build GRCh38
rs1021022426 Chr.9: 131513594-131513594 on Build GRCh38
rs771523115 Chr.9: 131513257-131513257 on Build GRCh38
rs760006624 Chr.9: 131513345-131513345 on Build GRCh38
rs77176471 Chr.9: 131513175-131513175 on Build GRCh38
rs397515400 Chr.9: 131513331-131513331 on Build GRCh38
rs915542989 Chr.9: 131513481-131513481 on Build GRCh38
rs886041907 Chr.9: 131513333-131513334 on Build GRCh38
rs200056620 Chr.9: 131513243-131513243 on Build GRCh38
rs996904456 Chr.9: 131513478-131513478 on Build GRCh38
rs777087288 Chr.9: 131513344-131513344 on Build GRCh38
rs967218137 Chr.9: 131513611-131513611 on Build GRCh38
rs139273349 Chr.9: 131513429-131513430 on Build GRCh38
rs200398689 Chr.9: 131513346-131513346 on Build GRCh38
rs12379992 Chr.9: 131513421-131513421 on Build GRCh38
rs756536065 Chr.9: 131513294-131513310 on Build GRCh38
rs200508760 Chr.9: 131513273-131513273 on Build GRCh38
rs754381871 Chr.9: 131513197-131513197 on Build GRCh38
rs370445482 Chr.9: 131513201-131513201 on Build GRCh38
rs773806164 Chr.9: 131513242-131513242 on Build GRCh38
rs190865033 Chr.9: 131513174-131513174 on Build GRCh38
rs780249086 Chr.9: 131513377-131513378 on Build GRCh38
rs139747841 Chr.9: 131513402-131513402 on Build GRCh38
rs183127679 Chr.9: 131513573-131513573 on Build GRCh38
rs751805517 Chr.9: 131513290-131513290 on Build GRCh38
rs779783063 Chr.9: 131513219-131513219 on Build GRCh38
rs757429050 Chr.9: 131513302-131513302 on Build GRCh38
rs758497210 Chr.9: 131513210-131513210 on Build GRCh38
rs749160547 Chr.9: 131513227-131513227 on Build GRCh38
rs752836585 Chr.9: 131513209-131513209 on Build GRCh38
rs1004005832 Chr.9: 131513493-131513493 on Build GRCh38
rs991044258 Chr.9: 131513431-131513431 on Build GRCh38
rs371908251 Chr.9: 131513347-131513347 on Build GRCh38
rs748283785 Chr.9: 131513613-131513613 on Build GRCh38
rs368393156 Chr.9: 131513577-131513577 on Build GRCh38

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