Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155239937-155240164 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
6359123 c.226T>C p.F76L Chr.1: 155239967-155239967 on Build GRCh38
7111909 c.187G>C p.D63H Chr.1: 155240006-155240006 on Build GRCh38
4022968 c.155C>T p.S52L Chr.1: 155240038-155240038 on Build GRCh38
161214 c.204G>A p.P68P Chr.1: 155239989-155239989 on Build GRCh38
6870043 c.211C>T p.P71S Chr.1: 155239982-155239982 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs145888253 Chr.1: 155240008-155240008 on Build GRCh38
rs760804175 Chr.1: 155240115-155240115 on Build GRCh38
rs749118277 Chr.1: 155240087-155240087 on Build GRCh38
rs151093421 Chr.1: 155239977-155239977 on Build GRCh38
rs368786234 Chr.1: 155239962-155239962 on Build GRCh38
rs757834551 Chr.1: 155239987-155239987 on Build GRCh38
rs752857428 Chr.1: 155239960-155239960 on Build GRCh38
rs779377390 Chr.1: 155240069-155240069 on Build GRCh38
rs750891392 Chr.1: 155240061-155240061 on Build GRCh38
rs767693527 Chr.1: 155239956-155239956 on Build GRCh38
rs878853318 Chr.1: 155240026-155240026 on Build GRCh38
rs747971975 Chr.1: 155240020-155240020 on Build GRCh38
rs121908302 Chr.1: 155240033-155240033 on Build GRCh38
rs779258874 Chr.1: 155239970-155239970 on Build GRCh38
rs750712570 Chr.1: 155239989-155239989 on Build GRCh38
rs75954905 Chr.1: 155239965-155239965 on Build GRCh38
rs763010874 Chr.1: 155240031-155240031 on Build GRCh38
rs146774384 Chr.1: 155239961-155239961 on Build GRCh38
rs770922837 Chr.1: 155240095-155240095 on Build GRCh38
rs773007510 Chr.1: 155240029-155240029 on Build GRCh38
rs768903489 Chr.1: 155240121-155240121 on Build GRCh38
rs769900428 Chr.1: 155239974-155239974 on Build GRCh38
rs750990483 Chr.1: 155239978-155239978 on Build GRCh38
rs371592589 Chr.1: 155239972-155239972 on Build GRCh38
rs199565854 Chr.1: 155240122-155240122 on Build GRCh38
rs142761046 Chr.1: 155240057-155240057 on Build GRCh38
rs190207858 Chr.1: 155240072-155240072 on Build GRCh38
rs200378040 Chr.1: 155240077-155240077 on Build GRCh38
rs758949381 Chr.1: 155240067-155240067 on Build GRCh38
rs775652188 Chr.1: 155240045-155240045 on Build GRCh38
rs145773486 Chr.1: 155240025-155240025 on Build GRCh38
rs747853210 Chr.1: 155240076-155240076 on Build GRCh38
rs543005460 Chr.1: 155240053-155240053 on Build GRCh38
rs760930573 Chr.1: 155240048-155240048 on Build GRCh38
rs141061530 Chr.1: 155239990-155239990 on Build GRCh38
rs765693058 Chr.1: 155240060-155240060 on Build GRCh38
rs761621516 Chr.1: 155239969-155239971 on Build GRCh38
rs777624686 Chr.1: 155240078-155240078 on Build GRCh38
rs373363286 Chr.1: 155239969-155239969 on Build GRCh38
rs751095441 Chr.1: 155240071-155240071 on Build GRCh38
rs185884197 Chr.1: 155240049-155240049 on Build GRCh38
rs74953658 Chr.1: 155240004-155240004 on Build GRCh38
rs756264143 Chr.1: 155240037-155240037 on Build GRCh38

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