Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 155237976-155238471 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
6422315 c.661C>T p.P221S Chr.1: 155238234-155238234 on Build GRCh38
896825 c.688G>A p.V230M Chr.1: 155238207-155238207 on Build GRCh38
4404256 c.674A>C p.K225T Chr.1: 155238221-155238221 on Build GRCh38
4503027 c.629C>T p.P210L Chr.1: 155238266-155238266 on Build GRCh38
3474896 c.649C>T p.P217S Chr.1: 155238246-155238246 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs183540501 Chr.1: 155238057-155238057 on Build GRCh38
rs772098596 Chr.1: 155238155-155238155 on Build GRCh38
rs188760929 Chr.1: 155238264-155238264 on Build GRCh38
rs398123534 Chr.1: 155238174-155238174 on Build GRCh38
rs76717906 Chr.1: 155238244-155238244 on Build GRCh38
rs364897 Chr.1: 155238215-155238215 on Build GRCh38
rs529870563 Chr.1: 155238075-155238075 on Build GRCh38
rs145066479 Chr.1: 155238055-155238055 on Build GRCh38
rs544083269 Chr.1: 155238238-155238238 on Build GRCh38
rs78659905 Chr.1: 155238256-155238256 on Build GRCh38
rs77916306 Chr.1: 155238301-155238301 on Build GRCh38
rs566671462 Chr.1: 155238376-155238376 on Build GRCh38
rs76727497 Chr.1: 155238232-155238232 on Build GRCh38
rs1009850780 Chr.1: 155238291-155238291 on Build GRCh38
rs1034162688 Chr.1: 155238434-155238434 on Build GRCh38
rs381427 Chr.1: 155238206-155238206 on Build GRCh38
rs527333751 Chr.1: 155238375-155238375 on Build GRCh38
rs867929413 Chr.1: 155238242-155238242 on Build GRCh38
rs372785813 Chr.1: 155238187-155238187 on Build GRCh38
rs772419342 Chr.1: 155238305-155238305 on Build GRCh38
rs77933015 Chr.1: 155238296-155238296 on Build GRCh38
rs398123532 Chr.1: 155238270-155238270 on Build GRCh38
rs77451368 Chr.1: 155238173-155238173 on Build GRCh38
rs398123531 Chr.1: 155238290-155238290 on Build GRCh38
rs76026102 Chr.1: 155238164-155238164 on Build GRCh38
rs369678230 Chr.1: 155238087-155238087 on Build GRCh38
rs79945741 Chr.1: 155238139-155238139 on Build GRCh38
rs550305278 Chr.1: 155238039-155238039 on Build GRCh38
rs1064644 Chr.1: 155238192-155238192 on Build GRCh38
rs1001787113 Chr.1: 155238428-155238428 on Build GRCh38
rs1009903585 Chr.1: 155238031-155238031 on Build GRCh38
rs747992229 Chr.1: 155238086-155238086 on Build GRCh38
rs74486098 Chr.1: 155238184-155238184 on Build GRCh38
rs774609294 Chr.1: 155238272-155238272 on Build GRCh38
rs866075757 Chr.1: 155238234-155238234 on Build GRCh38
rs774539868 Chr.1: 155238193-155238193 on Build GRCh38
rs753425476 Chr.1: 155238097-155238097 on Build GRCh38
rs539805773 Chr.1: 155238088-155238088 on Build GRCh38
rs756942598 Chr.1: 155238122-155238122 on Build GRCh38
rs375731497 Chr.1: 155238199-155238199 on Build GRCh38
rs374591570 Chr.1: 155238258-155238258 on Build GRCh38
rs556008401 Chr.1: 155238259-155238259 on Build GRCh38
rs80205046 Chr.1: 155238233-155238233 on Build GRCh38
rs2974923 Chr.1: 155238392-155238392 on Build GRCh38
rs786200979 Chr.1: 155238214-155238215 on Build GRCh38
rs749416070 Chr.1: 155238269-155238269 on Build GRCh38
rs381737 Chr.1: 155238141-155238141 on Build GRCh38
rs535592331 Chr.1: 155238052-155238052 on Build GRCh38
rs75370695 Chr.1: 155238208-155238208 on Build GRCh38
rs74462743 Chr.1: 155238194-155238194 on Build GRCh38
rs61748906 Chr.1: 155238228-155238228 on Build GRCh38
rs76500263 Chr.1: 155238293-155238293 on Build GRCh38
rs75636769 Chr.1: 155238209-155238209 on Build GRCh38
rs121908300 Chr.1: 155238144-155238144 on Build GRCh38
rs78911246 Chr.1: 155238212-155238212 on Build GRCh38
rs409652 Chr.1: 155238174-155238174 on Build GRCh38
rs76682322 Chr.1: 155238223-155238223 on Build GRCh38
rs777319607 Chr.1: 155238094-155238094 on Build GRCh38
rs201615998 Chr.1: 155238265-155238265 on Build GRCh38
rs904267933 Chr.1: 155238390-155238390 on Build GRCh38
rs764609479 Chr.1: 155238352-155238352 on Build GRCh38
rs560175843 Chr.1: 155238344-155238344 on Build GRCh38
rs373631650 Chr.1: 155238102-155238102 on Build GRCh38
rs376613535 Chr.1: 155238175-155238175 on Build GRCh38
rs76158190 Chr.1: 155238190-155238190 on Build GRCh38
rs381418 Chr.1: 155238214-155238214 on Build GRCh38
rs767914182 Chr.1: 155238202-155238202 on Build GRCh38
rs398123533 Chr.1: 155238261-155238261 on Build GRCh38
rs1051872176 Chr.1: 155238218-155238218 on Build GRCh38
rs80222298 Chr.1: 155238302-155238302 on Build GRCh38
rs773409311 Chr.1: 155238186-155238186 on Build GRCh38
rs558529804 Chr.1: 155238092-155238092 on Build GRCh38
rs749714463 Chr.1: 155238299-155238300 on Build GRCh38
rs1034708011 Chr.1: 155238061-155238061 on Build GRCh38

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