Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155235770-155235995 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
GBA
Entrez Gene ID
2629
Gene Name
glucosylceramidase beta
Gene Aliases
GBA1, GCB, GLUC
UniGene
Hs.282997
Gene Chromosome Location
Chr.1: 155234448-155244862 on Build GRCh38
Transcripts
NM_000157.3 NM_001005741.2 NM_001005742.2 NM_001171811.1 NM_001171812.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4463116 c.1277C>T p.P426L Chr.1: 155235792-155235792 on Build GRCh38
4022961 c.1267G>T p.A423S Chr.1: 155235802-155235802 on Build GRCh38
5002880 c.1243G>T p.V415F Chr.1: 155235826-155235826 on Build GRCh38
6540929 c.1278C>A p.P426P Chr.1: 155235791-155235791 on Build GRCh38
1253101 c.1262A>T p.N421I Chr.1: 155235807-155235807 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs749227753 Chr.1: 155235842-155235842 on Build GRCh38
rs911331923 Chr.1: 155235831-155235831 on Build GRCh38
rs773746413 Chr.1: 155235867-155235867 on Build GRCh38
rs536033045 Chr.1: 155235853-155235853 on Build GRCh38
rs75034092 Chr.1: 155235821-155235821 on Build GRCh38
rs76763715 Chr.1: 155235843-155235843 on Build GRCh38
rs377143075 Chr.1: 155235847-155235847 on Build GRCh38
rs751242076 Chr.1: 155235815-155235815 on Build GRCh38
rs1003268223 Chr.1: 155235957-155235957 on Build GRCh38
rs994723035 Chr.1: 155235792-155235792 on Build GRCh38
rs765980486 Chr.1: 155235879-155235879 on Build GRCh38
rs41264925 Chr.1: 155235928-155235928 on Build GRCh38
rs78715199 Chr.1: 155235812-155235812 on Build GRCh38
rs767298565 Chr.1: 155235892-155235892 on Build GRCh38
rs772548282 Chr.1: 155235798-155235798 on Build GRCh38
rs754743440 Chr.1: 155235819-155235819 on Build GRCh38
rs774000637 Chr.1: 155235883-155235883 on Build GRCh38
rs34620635 Chr.1: 155235975-155235975 on Build GRCh38
rs121908314 Chr.1: 155235841-155235841 on Build GRCh38
rs398123528 Chr.1: 155235829-155235829 on Build GRCh38
rs752496915 Chr.1: 155235893-155235893 on Build GRCh38
rs751684130 Chr.1: 155235886-155235886 on Build GRCh38
rs1053999282 Chr.1: 155235869-155235869 on Build GRCh38
rs201499639 Chr.1: 155235791-155235791 on Build GRCh38
rs187143994 Chr.1: 155235805-155235805 on Build GRCh38
rs76014919 Chr.1: 155235818-155235818 on Build GRCh38
rs121908311 Chr.1: 155235823-155235823 on Build GRCh38
rs74498117 Chr.1: 155235839-155235839 on Build GRCh38
rs762493290 Chr.1: 155235801-155235801 on Build GRCh38
rs768871318 Chr.1: 155235850-155235850 on Build GRCh38
rs1044699879 Chr.1: 155235926-155235926 on Build GRCh38
rs111417507 Chr.1: 155235866-155235866 on Build GRCh38
rs760484397 Chr.1: 155235896-155235896 on Build GRCh38
rs755952419 Chr.1: 155235824-155235824 on Build GRCh38
rs77284004 Chr.1: 155235813-155235813 on Build GRCh38
rs548435731 Chr.1: 155235918-155235918 on Build GRCh38
rs376960850 Chr.1: 155235956-155235956 on Build GRCh38
rs1026993108 Chr.1: 155235794-155235794 on Build GRCh38
rs1057519357 Chr.1: 155235792-155235792 on Build GRCh38
rs748568524 Chr.1: 155235857-155235857 on Build GRCh38
rs149171124 Chr.1: 155235790-155235790 on Build GRCh38
rs759203148 Chr.1: 155235886-155235886 on Build GRCh38
rs747231562 Chr.1: 155235848-155235848 on Build GRCh38
rs776925003 Chr.1: 155235855-155235855 on Build GRCh38
rs3115534 Chr.1: 155235878-155235878 on Build GRCh38

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