Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 46192417-46192642 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
POMGNT1
Entrez Gene ID
55624
Gene Name
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Gene Aliases
GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2
UniGene
Hs.525134
Gene Chromosome Location
Chr.1: 46188681-46220305 on Build GRCh38
Transcripts
NM_001243766.1 NM_001290129.1 NM_001290130.1 NM_017739.3 XM_005271010.1 XM_006710755.1 XM_006710756.1 XM_011541760.2 XM_017001690.1 XM_011540460.2

Gene Symbol
TSPAN1
Entrez Gene ID
10103
Gene Name
tetraspanin 1
Gene Aliases
NET1, TM4C, TM4SF
UniGene
Hs.38972
Gene Chromosome Location
Chr.1: 46175077-46196489 on Build GRCh38
Transcripts
NM_001243766.1 NM_001290129.1 NM_001290130.1 NM_017739.3 XM_005271010.1 XM_006710755.1 XM_006710756.1 XM_011541760.2 XM_017001690.1 XM_011540460.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6009272 c.1285-6C>T p.? Chr.1: 46192442-46192442 on Build GRCh38
7326655 c.1234C>A p.L412I Chr.1: 46192568-46192568 on Build GRCh38
5106684 c.1247A>G p.D416G Chr.1: 46192555-46192555 on Build GRCh38
3785302 c.1298C>T p.T433M Chr.1: 46192423-46192423 on Build GRCh38
6009274 c.1219-6C>T p.? Chr.1: 46192442-46192442 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs967380053 Chr.1: 46192575-46192575 on Build GRCh38
rs775367856 Chr.1: 46192503-46192503 on Build GRCh38
rs756026992 Chr.1: 46192572-46192572 on Build GRCh38
rs201073664 Chr.1: 46192454-46192454 on Build GRCh38
rs386834011 Chr.1: 46192528-46192528 on Build GRCh38
rs565334918 Chr.1: 46192516-46192516 on Build GRCh38
rs755104526 Chr.1: 46192593-46192593 on Build GRCh38
rs386834012 Chr.1: 46192438-46192438 on Build GRCh38
rs371147208 Chr.1: 46192463-46192463 on Build GRCh38
rs113800844 Chr.1: 46192488-46192488 on Build GRCh38
rs373150452 Chr.1: 46192441-46192441 on Build GRCh38
rs750278547 Chr.1: 46192568-46192568 on Build GRCh38
rs749421960 Chr.1: 46192469-46192469 on Build GRCh38
rs778941358 Chr.1: 46192594-46192594 on Build GRCh38
rs749285030 Chr.1: 46192582-46192582 on Build GRCh38
rs768726881 Chr.1: 46192470-46192470 on Build GRCh38
rs962559914 Chr.1: 46192494-46192494 on Build GRCh38
rs41292143 Chr.1: 46192545-46192545 on Build GRCh38
rs774662217 Chr.1: 46192474-46192474 on Build GRCh38
rs377723749 Chr.1: 46192614-46192614 on Build GRCh38
rs918519886 Chr.1: 46192500-46192500 on Build GRCh38
rs747425597 Chr.1: 46192611-46192611 on Build GRCh38
rs377292905 Chr.1: 46192442-46192442 on Build GRCh38
rs781051137 Chr.1: 46192440-46192440 on Build GRCh38
rs1057516409 Chr.1: 46192499-46192516 on Build GRCh38
rs565797493 Chr.1: 46192509-46192509 on Build GRCh38
rs762556760 Chr.1: 46192532-46192532 on Build GRCh38
rs111255088 Chr.1: 46192605-46192605 on Build GRCh38
rs973972169 Chr.1: 46192496-46192496 on Build GRCh38
rs756939646 Chr.1: 46192554-46192554 on Build GRCh38
rs769793612 Chr.1: 46192458-46192458 on Build GRCh38
rs780965440 Chr.1: 46192566-46192566 on Build GRCh38
rs780004201 Chr.1: 46192573-46192573 on Build GRCh38
rs547199342 Chr.1: 46192467-46192467 on Build GRCh38
rs748406845 Chr.1: 46192600-46192600 on Build GRCh38
rs1039129353 Chr.1: 46192485-46192485 on Build GRCh38
rs991027525 Chr.1: 46192475-46192475 on Build GRCh38
rs772489449 Chr.1: 46192601-46192601 on Build GRCh38
rs762030356 Chr.1: 46192487-46192487 on Build GRCh38
rs761259999 Chr.1: 46192510-46192510 on Build GRCh38
rs763604454 Chr.1: 46192533-46192533 on Build GRCh38

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