Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 293228-293501 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
1723859 c.859C>T p.P287S Chr.11: 293412-293412 on Build GRCh38
1585678 c.1338G>A p.Q446Q Chr.11: 293230-293230 on Build GRCh38
6837830 c.826G>A p.A276T Chr.11: 293379-293379 on Build GRCh38
3446618 c.899C>T p.P300L Chr.11: 293452-293452 on Build GRCh38
1723858 c.1390C>T p.P464S Chr.11: 293412-293412 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs369832274 Chr.11: 293255-293255 on Build GRCh38
rs972598609 Chr.11: 293294-293294 on Build GRCh38
rs576806215 Chr.11: 293406-293406 on Build GRCh38
rs377496840 Chr.11: 293370-293370 on Build GRCh38
rs181135445 Chr.11: 293448-293448 on Build GRCh38
rs116623300 Chr.11: 293475-293475 on Build GRCh38
rs747913343 Chr.11: 293462-293462 on Build GRCh38
rs776136060 Chr.11: 293312-293312 on Build GRCh38
rs780523720 Chr.11: 293451-293451 on Build GRCh38
rs753272628 Chr.11: 293359-293359 on Build GRCh38
rs776733389 Chr.11: 293261-293261 on Build GRCh38
rs758235637 Chr.11: 293464-293464 on Build GRCh38
rs202147852 Chr.11: 293347-293347 on Build GRCh38
rs111653871 Chr.11: 293293-293293 on Build GRCh38
rs774643498 Chr.11: 293436-293436 on Build GRCh38
rs764433421 Chr.11: 293431-293431 on Build GRCh38
rs376447033 Chr.11: 293459-293459 on Build GRCh38
rs367946981 Chr.11: 293480-293480 on Build GRCh38
rs894264623 Chr.11: 293360-293360 on Build GRCh38
rs201630845 Chr.11: 293458-293458 on Build GRCh38
rs749284058 Chr.11: 293399-293399 on Build GRCh38
rs746144117 Chr.11: 293471-293471 on Build GRCh38
rs369421655 Chr.11: 293315-293315 on Build GRCh38
rs776943028 Chr.11: 293426-293426 on Build GRCh38
rs756966610 Chr.11: 293372-293372 on Build GRCh38
rs773545135 Chr.11: 293323-293323 on Build GRCh38
rs568660152 Chr.11: 293348-293348 on Build GRCh38
rs762166659 Chr.11: 293439-293439 on Build GRCh38
rs763521691 Chr.11: 293429-293429 on Build GRCh38
rs779005950 Chr.11: 293460-293460 on Build GRCh38
rs374330377 Chr.11: 293477-293477 on Build GRCh38
rs767033864 Chr.11: 293445-293445 on Build GRCh38
rs779805232 Chr.11: 293396-293396 on Build GRCh38
rs757250528 Chr.11: 293302-293302 on Build GRCh38
rs17656208 Chr.11: 293385-293385 on Build GRCh38
rs770993552 Chr.11: 293420-293420 on Build GRCh38
rs745809005 Chr.11: 293279-293279 on Build GRCh38
rs781230279 Chr.11: 293424-293424 on Build GRCh38
rs756731735 Chr.11: 293265-293265 on Build GRCh38
rs755553946 Chr.11: 293452-293452 on Build GRCh38
rs778916050 Chr.11: 293407-293407 on Build GRCh38
rs757278129 Chr.11: 293272-293272 on Build GRCh38
rs200617892 Chr.11: 293350-293350 on Build GRCh38
rs150450864 Chr.11: 293284-293284 on Build GRCh38
rs781251013 Chr.11: 293466-293466 on Build GRCh38
rs538044662 Chr.11: 293335-293335 on Build GRCh38
rs549879801 Chr.11: 293282-293282 on Build GRCh38
rs372909984 Chr.11: 293271-293271 on Build GRCh38
rs771129729 Chr.11: 293339-293339 on Build GRCh38
rs200022777 Chr.11: 293428-293428 on Build GRCh38
rs903088742 Chr.11: 293313-293313 on Build GRCh38
rs751211845 Chr.11: 293371-293371 on Build GRCh38
rs369509926 Chr.11: 293413-293413 on Build GRCh38
rs749387363 Chr.11: 293479-293479 on Build GRCh38
rs780637545 Chr.11: 293275-293275 on Build GRCh38
rs755677484 Chr.11: 293391-293391 on Build GRCh38

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