Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155236088-155236593 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
3474894 c.1072C>T p.P358S Chr.1: 155236397-155236397 on Build GRCh38
6121483 c.1205A>G p.Y402C Chr.1: 155236264-155236264 on Build GRCh38
5754217 c.1080A>C p.K360N Chr.1: 155236389-155236389 on Build GRCh38
4762980 c.1129G>C p.A377P Chr.1: 155236340-155236340 on Build GRCh38
7297270 c.1209C>T p.S403S Chr.1: 155236260-155236260 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1064647 Chr.1: 155236431-155236431 on Build GRCh38
rs772645370 Chr.1: 155236558-155236558 on Build GRCh38
rs76228122 Chr.1: 155236264-155236264 on Build GRCh38
rs142504144 Chr.1: 155236145-155236145 on Build GRCh38
rs573022301 Chr.1: 155236175-155236175 on Build GRCh38
rs794727963 Chr.1: 155236439-155236439 on Build GRCh38
rs748563507 Chr.1: 155236474-155236474 on Build GRCh38
rs765182863 Chr.1: 155236310-155236310 on Build GRCh38
rs186573969 Chr.1: 155236499-155236499 on Build GRCh38
rs956776190 Chr.1: 155236500-155236500 on Build GRCh38
rs540967271 Chr.1: 155236411-155236411 on Build GRCh38
rs761628930 Chr.1: 155236393-155236393 on Build GRCh38
rs143222798 Chr.1: 155236377-155236377 on Build GRCh38
rs915524760 Chr.1: 155236190-155236190 on Build GRCh38
rs878853315 Chr.1: 155236292-155236292 on Build GRCh38
rs11558184 Chr.1: 155236294-155236294 on Build GRCh38
rs939103483 Chr.1: 155236230-155236230 on Build GRCh38
rs1064646 Chr.1: 155236443-155236443 on Build GRCh38
rs948281474 Chr.1: 155236192-155236192 on Build GRCh38
rs74979486 Chr.1: 155236276-155236276 on Build GRCh38
rs550660699 Chr.1: 155236563-155236563 on Build GRCh38
rs398123527 Chr.1: 155236298-155236298 on Build GRCh38
rs761681845 Chr.1: 155236302-155236302 on Build GRCh38
rs370347143 Chr.1: 155236225-155236225 on Build GRCh38
rs776118553 Chr.1: 155236514-155236514 on Build GRCh38
rs866313115 Chr.1: 155236280-155236280 on Build GRCh38
rs747197867 Chr.1: 155236155-155236155 on Build GRCh38
rs552886359 Chr.1: 155236215-155236215 on Build GRCh38
rs754956589 Chr.1: 155236198-155236199 on Build GRCh38
rs121908308 Chr.1: 155236295-155236295 on Build GRCh38
rs924015108 Chr.1: 155236154-155236154 on Build GRCh38
rs763847888 Chr.1: 155236195-155236195 on Build GRCh38
rs749736020 Chr.1: 155236250-155236250 on Build GRCh38
rs780045072 Chr.1: 155236200-155236200 on Build GRCh38
rs374463271 Chr.1: 155236457-155236457 on Build GRCh38
rs769571258 Chr.1: 155236520-155236520 on Build GRCh38
rs752959907 Chr.1: 155236338-155236338 on Build GRCh38
rs781356917 Chr.1: 155236314-155236315 on Build GRCh38
rs760307559 Chr.1: 155236285-155236285 on Build GRCh38
rs756684984 Chr.1: 155236479-155236479 on Build GRCh38
rs771575291 Chr.1: 155236258-155236258 on Build GRCh38
rs762944845 Chr.1: 155236419-155236419 on Build GRCh38
rs781563800 Chr.1: 155236227-155236227 on Build GRCh38
rs78188205 Chr.1: 155236399-155236399 on Build GRCh38
rs76539814 Chr.1: 155236384-155236384 on Build GRCh38
rs878869396 Chr.1: 155236232-155236233 on Build GRCh38
rs878853319 Chr.1: 155236272-155236272 on Build GRCh38
rs778140625 Chr.1: 155236353-155236353 on Build GRCh38
rs532252640 Chr.1: 155236556-155236556 on Build GRCh38
rs398123526 Chr.1: 155236409-155236409 on Build GRCh38
rs779561337 Chr.1: 155236507-155236507 on Build GRCh38
rs771522209 Chr.1: 155236365-155236365 on Build GRCh38
rs749633975 Chr.1: 155236356-155236356 on Build GRCh38
rs181720335 Chr.1: 155236436-155236436 on Build GRCh38
rs773947710 Chr.1: 155236260-155236260 on Build GRCh38
rs989591056 Chr.1: 155236183-155236183 on Build GRCh38
rs560605164 Chr.1: 155236493-155236493 on Build GRCh38
rs2230288 Chr.1: 155236376-155236376 on Build GRCh38
rs121908305 Chr.1: 155236379-155236379 on Build GRCh38
rs777901497 Chr.1: 155236129-155236129 on Build GRCh38
rs121908306 Chr.1: 155236328-155236328 on Build GRCh38
rs772994286 Chr.1: 155236521-155236521 on Build GRCh38
rs552492602 Chr.1: 155236541-155236541 on Build GRCh38
rs771744858 Chr.1: 155236266-155236266 on Build GRCh38
rs121908304 Chr.1: 155236416-155236416 on Build GRCh38
rs149487315 Chr.1: 155236269-155236269 on Build GRCh38
rs78198234 Chr.1: 155236420-155236420 on Build GRCh38
rs976829552 Chr.1: 155236149-155236149 on Build GRCh38
rs1064648 Chr.1: 155236366-155236366 on Build GRCh38
rs753583304 Chr.1: 155236296-155236296 on Build GRCh38
rs75391747 Chr.1: 155236305-155236305 on Build GRCh38
rs568829590 Chr.1: 155236156-155236156 on Build GRCh38
rs760310921 Chr.1: 155236383-155236383 on Build GRCh38
rs768315450 Chr.1: 155236512-155236512 on Build GRCh38
rs75528494 Chr.1: 155236254-155236254 on Build GRCh38
rs989622263 Chr.1: 155236504-155236504 on Build GRCh38
rs77321207 Chr.1: 155236441-155236441 on Build GRCh38
rs751598832 Chr.1: 155236313-155236313 on Build GRCh38
rs80317710 Chr.1: 155236374-155236374 on Build GRCh38
rs757670475 Chr.1: 155236477-155236477 on Build GRCh38
rs79311125 Chr.1: 155236413-155236413 on Build GRCh38
rs747848955 Chr.1: 155236516-155236516 on Build GRCh38
rs554541037 Chr.1: 155236167-155236167 on Build GRCh38
rs781306264 Chr.1: 155236331-155236331 on Build GRCh38
rs75548401 Chr.1: 155236246-155236246 on Build GRCh38
rs1057519358 Chr.1: 155236249-155236249 on Build GRCh38
rs757211442 Chr.1: 155236199-155236199 on Build GRCh38
rs121908309 Chr.1: 155236277-155236277 on Build GRCh38
rs78396650 Chr.1: 155236426-155236426 on Build GRCh38
rs754148803 Chr.1: 155236470-155236470 on Build GRCh38
rs536565557 Chr.1: 155236161-155236161 on Build GRCh38
rs756292503 Chr.1: 155236339-155236339 on Build GRCh38
rs781424692 Chr.1: 155236221-155236221 on Build GRCh38
rs77714449 Chr.1: 155236444-155236444 on Build GRCh38
rs756307975 Chr.1: 155236464-155236464 on Build GRCh38
rs80356765 Chr.1: 155236340-155236340 on Build GRCh38
rs371083513 Chr.1: 155236424-155236424 on Build GRCh38
rs9628662 Chr.1: 155236550-155236550 on Build GRCh38
rs764251205 Chr.1: 155236469-155236469 on Build GRCh38
rs1031110227 Chr.1: 155236480-155236480 on Build GRCh38
rs540038248 Chr.1: 155236213-155236213 on Build GRCh38
rs374306700 Chr.1: 155236367-155236367 on Build GRCh38
rs138498426 Chr.1: 155236245-155236245 on Build GRCh38
rs121908307 Chr.1: 155236261-155236261 on Build GRCh38
rs755021234 Chr.1: 155236326-155236326 on Build GRCh38
rs746523678 Chr.1: 155236511-155236511 on Build GRCh38
rs530006262 Chr.1: 155236404-155236404 on Build GRCh38
rs868591897 Chr.1: 155236318-155236318 on Build GRCh38
rs1018247127 Chr.1: 155236131-155236131 on Build GRCh38
rs758981189 Chr.1: 155236502-155236502 on Build GRCh38

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