Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 290535-290796 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
PGGHG
Entrez Gene ID
80162
Gene Name
protein-glucosylgalactosylhydroxylysine glucosidase
Gene Aliases
ATHL1
UniGene
Hs.353181
Gene Chromosome Location
Chr.11: 287760-295688 on Build GRCh38
Transcripts
NM_025092.4 XM_011520383.2 XM_011520384.2 XM_011520385.2 XM_011520386.2 XM_011520387.2 XM_017018355.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5831731 c.507_508insG p.P172fs*22 Chr.11: 290714-290715 on Build GRCh38
3383414 c.490C>A p.L164I Chr.11: 290697-290697 on Build GRCh38
3710164 c.509G>T p.G170V Chr.11: 290716-290716 on Build GRCh38
358472 c.16G>C p.A6P Chr.11: 290754-290754 on Build GRCh38
1353353 c.508delG p.P172fs*16 Chr.11: 290715-290715 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs759823292 Chr.11: 290664-290664 on Build GRCh38
rs902785150 Chr.11: 290654-290654 on Build GRCh38
rs771873020 Chr.11: 290659-290659 on Build GRCh38
rs756483084 Chr.11: 290683-290683 on Build GRCh38
rs376440498 Chr.11: 290699-290699 on Build GRCh38
rs750931203 Chr.11: 290760-290760 on Build GRCh38
rs780857717 Chr.11: 290628-290628 on Build GRCh38
rs765501558 Chr.11: 290667-290667 on Build GRCh38
rs765406788 Chr.11: 290555-290555 on Build GRCh38
rs752887401 Chr.11: 290569-290569 on Build GRCh38
rs758421778 Chr.11: 290571-290571 on Build GRCh38
rs950682709 Chr.11: 290761-290761 on Build GRCh38
rs542864967 Chr.11: 290682-290682 on Build GRCh38
rs767952967 Chr.11: 290739-290739 on Build GRCh38
rs745319007 Chr.11: 290694-290695 on Build GRCh38
rs763345981 Chr.11: 290560-290560 on Build GRCh38
rs1015962072 Chr.11: 290769-290769 on Build GRCh38
rs746738497 Chr.11: 290718-290718 on Build GRCh38
rs773299991 Chr.11: 290716-290716 on Build GRCh38
rs768748877 Chr.11: 290736-290736 on Build GRCh38
rs748770834 Chr.11: 290629-290629 on Build GRCh38
rs768052220 Chr.11: 290639-290639 on Build GRCh38
rs947667559 Chr.11: 290584-290584 on Build GRCh38
rs149921679 Chr.11: 290715-290715 on Build GRCh38
rs984846977 Chr.11: 290763-290763 on Build GRCh38
rs773209706 Chr.11: 290660-290660 on Build GRCh38
rs755830556 Chr.11: 290606-290606 on Build GRCh38
rs901637826 Chr.11: 290720-290720 on Build GRCh38
rs769592797 Chr.11: 290715-290731 on Build GRCh38
rs779611436 Chr.11: 290684-290684 on Build GRCh38
rs774965357 Chr.11: 290715-290715 on Build GRCh38
rs763134680 Chr.11: 290722-290722 on Build GRCh38
rs781584258 Chr.11: 290599-290599 on Build GRCh38
rs949555699 Chr.11: 290557-290557 on Build GRCh38
rs748054613 Chr.11: 290646-290646 on Build GRCh38
rs775861335 Chr.11: 290668-290668 on Build GRCh38
rs889854093 Chr.11: 290702-290702 on Build GRCh38
rs752039772 Chr.11: 290578-290578 on Build GRCh38
rs779525417 Chr.11: 290627-290627 on Build GRCh38
rs762280608 Chr.11: 290747-290748 on Build GRCh38
rs754460238 Chr.11: 290708-290708 on Build GRCh38
rs767862686 Chr.11: 290674-290674 on Build GRCh38
rs372880922 Chr.11: 290693-290693 on Build GRCh38
rs1042583406 Chr.11: 290593-290593 on Build GRCh38
rs752085391 Chr.11: 290671-290671 on Build GRCh38
rs545000615 Chr.11: 290772-290772 on Build GRCh38
rs572792323 Chr.11: 290721-290721 on Build GRCh38
rs963505068 Chr.11: 290759-290759 on Build GRCh38
rs745487632 Chr.11: 290600-290600 on Build GRCh38
rs762368477 Chr.11: 290737-290737 on Build GRCh38
rs764595889 Chr.11: 290576-290576 on Build GRCh38
rs751311658 Chr.11: 290688-290688 on Build GRCh38
rs766843025 Chr.11: 290644-290644 on Build GRCh38
rs573854094 Chr.11: 290596-290596 on Build GRCh38
rs778332421 Chr.11: 290713-290713 on Build GRCh38

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