Product Details

Primer Sequences

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Primer Chromosome Location

Chr.1: 155239572-155240066 on Build GRCh38 View in UCSC browser

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

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Cosmic ID	Mutation	AA	Transcript Location
6359123	c.226T>C	p.F76L	Chr.1: 155239967-155239967 on Build GRCh38
3360370	c.308G>C	p.G103A	Chr.1: 155239762-155239762 on Build GRCh38
3802096	c.158T>G	p.V53G	Chr.1: 155240035-155240035 on Build GRCh38
4962341	c.145G>A	p.G49S	Chr.1: 155240048-155240048 on Build GRCh38
6669659	c.144C>T	p.F48F	Chr.1: 155240049-155240049 on Build GRCh38
4773925	c.233G>A	p.R78H	Chr.1: 155239960-155239960 on Build GRCh38
3721898	c.390C>T	p.L130L	Chr.1: 155239680-155239680 on Build GRCh38
6459381	c.407C>G	p.S136*	Chr.1: 155239663-155239663 on Build GRCh38
675782	c.205A>C	p.T69P	Chr.1: 155239988-155239988 on Build GRCh38
123325	c.379G>A	p.A127T	Chr.1: 155239691-155239691 on Build GRCh38
3979864	c.171C>T	p.C57C	Chr.1: 155240022-155240022 on Build GRCh38
3976192	c.312G>T	p.L104L	Chr.1: 155239758-155239758 on Build GRCh38
3976191	c.388C>G	p.L130V	Chr.1: 155239682-155239682 on Build GRCh38
6669660	c.215C>T	p.A72V	Chr.1: 155239978-155239978 on Build GRCh38
5506630	c.134C>A	p.P45H	Chr.1: 155240059-155240059 on Build GRCh38
5377831	c.437C>T	p.S146L	Chr.1: 155239633-155239633 on Build GRCh38
414006	c.415G>T	p.A139S	Chr.1: 155239655-155239655 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
5531620	c.369C>T	p.A123A	Chr.1: 155239701-155239701 on Build GRCh38
161214	c.204G>A	p.P68P	Chr.1: 155239989-155239989 on Build GRCh38
4022967	c.434A>G	p.K145R	Chr.1: 155239636-155239636 on Build GRCh38
5531619	c.368C>T	p.A123V	Chr.1: 155239702-155239702 on Build GRCh38
6870043	c.211C>T	p.P71S	Chr.1: 155239982-155239982 on Build GRCh38
1334595	c.256C>T	p.R86*	Chr.1: 155239937-155239937 on Build GRCh38
4022966	c.440A>G	p.Y147C	Chr.1: 155239630-155239630 on Build GRCh38
6835296	c.134C>G	p.P45R	Chr.1: 155240059-155240059 on Build GRCh38
5522743	c.342C>T	p.F114F	Chr.1: 155239728-155239728 on Build GRCh38
5881027	c.301G>A	p.G101S	Chr.1: 155239892-155239892 on Build GRCh38
4188494	c.367delG	p.A123fs*2	Chr.1: 155239703-155239703 on Build GRCh38
4142787	c.258A>C	p.R86R	Chr.1: 155239935-155239935 on Build GRCh38
252517	c.413C>T	p.P138L	Chr.1: 155239657-155239657 on Build GRCh38
7420496	c.244A>G	p.T82A	Chr.1: 155239949-155239949 on Build GRCh38
2210255	c.203delC	p.P68fs*23	Chr.1: 155239990-155239990 on Build GRCh38
290055	c.234C>T	p.R78R	Chr.1: 155239959-155239959 on Build GRCh38
4475847	c.201C>T	p.P67P	Chr.1: 155239992-155239992 on Build GRCh38
252999	c.413delC	p.P138fs*62	Chr.1: 155239657-155239657 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs145888253	Chr.1: 155240008-155240008 on Build GRCh38
rs776232497	Chr.1: 155239814-155239823 on Build GRCh38
rs878853314	Chr.1: 155239655-155239655 on Build GRCh38
rs1141814	Chr.1: 155239934-155239934 on Build GRCh38
rs121908312	Chr.1: 155239716-155239716 on Build GRCh38
rs368786234	Chr.1: 155239962-155239962 on Build GRCh38
rs749867889	Chr.1: 155239775-155239775 on Build GRCh38
rs79175920	Chr.1: 155239683-155239683 on Build GRCh38
rs745398454	Chr.1: 155239910-155239910 on Build GRCh38
rs188289486	Chr.1: 155239837-155239837 on Build GRCh38
rs757834551	Chr.1: 155239987-155239987 on Build GRCh38
rs752857428	Chr.1: 155239960-155239960 on Build GRCh38
rs78669556	Chr.1: 155239932-155239932 on Build GRCh38
rs878853316	Chr.1: 155239663-155239663 on Build GRCh38
rs753816998	Chr.1: 155239699-155239699 on Build GRCh38
rs758447515	Chr.1: 155239633-155239633 on Build GRCh38
rs916865472	Chr.1: 155239735-155239735 on Build GRCh38
rs878853318	Chr.1: 155240026-155240026 on Build GRCh38
rs747971975	Chr.1: 155240020-155240020 on Build GRCh38
rs757848523	Chr.1: 155239894-155239894 on Build GRCh38
rs372156961	Chr.1: 155239791-155239791 on Build GRCh38
rs781563451	Chr.1: 155239758-155239758 on Build GRCh38
rs779258874	Chr.1: 155239970-155239970 on Build GRCh38
rs121908302	Chr.1: 155240033-155240033 on Build GRCh38
rs757409399	Chr.1: 155239848-155239848 on Build GRCh38
rs377315750	Chr.1: 155239803-155239803 on Build GRCh38
rs75954905	Chr.1: 155239965-155239965 on Build GRCh38
rs773007510	Chr.1: 155240029-155240029 on Build GRCh38
rs779619231	Chr.1: 155239740-155239740 on Build GRCh38
rs769900428	Chr.1: 155239974-155239974 on Build GRCh38
rs770218957	Chr.1: 155239616-155239616 on Build GRCh38
rs760358958	Chr.1: 155239838-155239838 on Build GRCh38
rs897478056	Chr.1: 155239863-155239863 on Build GRCh38
rs770561256	Chr.1: 155239788-155239788 on Build GRCh38
rs371592589	Chr.1: 155239972-155239972 on Build GRCh38
rs761806383	Chr.1: 155239853-155239853 on Build GRCh38
rs748485792	Chr.1: 155239762-155239762 on Build GRCh38
rs780169533	Chr.1: 155239746-155239746 on Build GRCh38
rs775652188	Chr.1: 155240045-155240045 on Build GRCh38
rs746684178	Chr.1: 155239778-155239778 on Build GRCh38
rs369792423	Chr.1: 155239858-155239858 on Build GRCh38
rs1141820	Chr.1: 155239897-155239897 on Build GRCh38
rs141061530	Chr.1: 155239990-155239990 on Build GRCh38
rs761621516	Chr.1: 155239969-155239971 on Build GRCh38
rs539166948	Chr.1: 155239615-155239615 on Build GRCh38
rs111857613	Chr.1: 155239773-155239773 on Build GRCh38
rs755161012	Chr.1: 155239752-155239752 on Build GRCh38
rs375471032	Chr.1: 155239854-155239854 on Build GRCh38
rs373363286	Chr.1: 155239969-155239969 on Build GRCh38
rs1141818	Chr.1: 155239898-155239898 on Build GRCh38
rs763972468	Chr.1: 155239687-155239687 on Build GRCh38
rs74953658	Chr.1: 155240004-155240004 on Build GRCh38
rs756264143	Chr.1: 155240037-155240037 on Build GRCh38
rs77829017	Chr.1: 155239939-155239939 on Build GRCh38
rs76337315	Chr.1: 155239953-155239953 on Build GRCh38
rs756540913	Chr.1: 155239767-155239767 on Build GRCh38
rs368145008	Chr.1: 155239748-155239748 on Build GRCh38
rs151093421	Chr.1: 155239977-155239977 on Build GRCh38
rs1141815	Chr.1: 155239918-155239918 on Build GRCh38
rs758455177	Chr.1: 155239700-155239700 on Build GRCh38
rs753011212	Chr.1: 155239872-155239872 on Build GRCh38
rs767272691	Chr.1: 155239658-155239658 on Build GRCh38
rs794727708	Chr.1: 155239639-155239639 on Build GRCh38
rs767693527	Chr.1: 155239956-155239956 on Build GRCh38
rs746737219	Chr.1: 155239929-155239929 on Build GRCh38
rs770614424	Chr.1: 155239643-155239643 on Build GRCh38
rs767999479	Chr.1: 155239789-155239790 on Build GRCh38
rs752444566	Chr.1: 155239680-155239680 on Build GRCh38
rs750712570	Chr.1: 155239989-155239989 on Build GRCh38
rs1141821	Chr.1: 155239893-155239893 on Build GRCh38
rs1050455670	Chr.1: 155239914-155239914 on Build GRCh38
rs763010874	Chr.1: 155240031-155240031 on Build GRCh38
rs1038197220	Chr.1: 155239862-155239862 on Build GRCh38
rs1141810	Chr.1: 155239950-155239950 on Build GRCh38
rs146774384	Chr.1: 155239961-155239961 on Build GRCh38
rs765182795	Chr.1: 155239945-155239945 on Build GRCh38
rs750990483	Chr.1: 155239978-155239978 on Build GRCh38
rs759174705	Chr.1: 155239657-155239657 on Build GRCh38
rs1033293531	Chr.1: 155239609-155239609 on Build GRCh38
rs771643561	Chr.1: 155239806-155239806 on Build GRCh38
rs144173415	Chr.1: 155239936-155239936 on Build GRCh38
rs774985960	Chr.1: 155239926-155239926 on Build GRCh38
rs778349378	Chr.1: 155239890-155239890 on Build GRCh38
rs867024654	Chr.1: 155239709-155239709 on Build GRCh38
rs145773486	Chr.1: 155240025-155240025 on Build GRCh38
rs78769774	Chr.1: 155239933-155239933 on Build GRCh38
rs771654706	Chr.1: 155239923-155239923 on Build GRCh38
rs763930060	Chr.1: 155239843-155239843 on Build GRCh38
rs868211463	Chr.1: 155239705-155239705 on Build GRCh38
rs374003673	Chr.1: 155239648-155239648 on Build GRCh38
rs1141811	Chr.1: 155239948-155239948 on Build GRCh38
rs781476674	Chr.1: 155239598-155239598 on Build GRCh38
rs1141816	Chr.1: 155239914-155239914 on Build GRCh38
rs772806479	Chr.1: 155239623-155239623 on Build GRCh38
rs1141812	Chr.1: 155239946-155239946 on Build GRCh38
rs756420893	Chr.1: 155239875-155239875 on Build GRCh38

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