Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 292739-292994 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
1585679 c.1174C>T p.R392* Chr.11: 292901-292901 on Build GRCh38
7356836 c.704A>C p.E235A Chr.11: 292962-292962 on Build GRCh38
5815857 c.672G>A p.R224R Chr.11: 292930-292930 on Build GRCh38
5815856 c.1203G>A p.R401R Chr.11: 292930-292930 on Build GRCh38
1245645 c.1212C>T p.A404A Chr.11: 292939-292939 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs771411404 Chr.11: 292932-292932 on Build GRCh38
rs879014487 Chr.11: 292879-292879 on Build GRCh38
rs756982817 Chr.11: 292835-292835 on Build GRCh38
rs145280533 Chr.11: 292973-292973 on Build GRCh38
rs967541951 Chr.11: 292968-292968 on Build GRCh38
rs779067390 Chr.11: 292907-292907 on Build GRCh38
rs773541695 Chr.11: 292855-292855 on Build GRCh38
rs758449268 Chr.11: 292921-292921 on Build GRCh38
rs897271779 Chr.11: 292821-292821 on Build GRCh38
rs374388402 Chr.11: 292922-292922 on Build GRCh38
rs761874563 Chr.11: 292895-292895 on Build GRCh38
rs764881216 Chr.11: 292832-292832 on Build GRCh38
rs373964830 Chr.11: 292856-292856 on Build GRCh38
rs769508282 Chr.11: 292883-292883 on Build GRCh38
rs775263042 Chr.11: 292956-292956 on Build GRCh38
rs758196372 Chr.11: 292831-292831 on Build GRCh38
rs142215595 Chr.11: 292887-292887 on Build GRCh38
rs771197997 Chr.11: 292857-292857 on Build GRCh38
rs370073465 Chr.11: 292869-292869 on Build GRCh38
rs115207440 Chr.11: 292861-292861 on Build GRCh38
rs767199549 Chr.11: 292901-292901 on Build GRCh38
rs200591136 Chr.11: 292971-292971 on Build GRCh38
rs11246056 Chr.11: 292805-292805 on Build GRCh38
rs369165114 Chr.11: 292853-292853 on Build GRCh38
rs989113188 Chr.11: 292778-292778 on Build GRCh38
rs146770651 Chr.11: 292892-292892 on Build GRCh38
rs1043428459 Chr.11: 292802-292802 on Build GRCh38
rs568096396 Chr.11: 292809-292809 on Build GRCh38
rs772168575 Chr.11: 292854-292854 on Build GRCh38
rs753935715 Chr.11: 292969-292969 on Build GRCh38
rs779120646 Chr.11: 292848-292848 on Build GRCh38
rs140222962 Chr.11: 292962-292962 on Build GRCh38
rs543435538 Chr.11: 292789-292789 on Build GRCh38
rs377674052 Chr.11: 292838-292838 on Build GRCh38
rs1035396168 Chr.11: 292972-292972 on Build GRCh38
rs554959633 Chr.11: 292933-292933 on Build GRCh38
rs755906539 Chr.11: 292906-292906 on Build GRCh38
rs570565217 Chr.11: 292836-292836 on Build GRCh38
rs913463388 Chr.11: 292779-292779 on Build GRCh38
rs538556338 Chr.11: 292902-292902 on Build GRCh38
rs878937063 Chr.11: 292880-292880 on Build GRCh38
rs762506921 Chr.11: 292888-292888 on Build GRCh38
rs889593256 Chr.11: 292969-292969 on Build GRCh38
rs770309826 Chr.11: 292955-292955 on Build GRCh38
rs759992696 Chr.11: 292868-292868 on Build GRCh38
rs370862533 Chr.11: 292837-292837 on Build GRCh38
rs11602423 Chr.11: 292798-292798 on Build GRCh38
rs763712888 Chr.11: 292889-292889 on Build GRCh38
rs752937899 Chr.11: 292912-292912 on Build GRCh38
rs1036979320 Chr.11: 292882-292882 on Build GRCh38
rs746199014 Chr.11: 292940-292940 on Build GRCh38
rs533545798 Chr.11: 292820-292820 on Build GRCh38
rs547376637 Chr.11: 292823-292823 on Build GRCh38

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