Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 22748868-22749097 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
GBA3
Entrez Gene ID
57733
Gene Name
glucosylceramidase beta 3 (gene/pseudogene)
Gene Aliases
CBG, CBGL1, GLUC, KLRP
UniGene
Hs.653107
Gene Chromosome Location
Chr.4: 22692914-22819575 on Build GRCh38
Transcripts
NM_001128432.2 NM_001277225.1 NM_020973.4 NR_102355.1 NR_102356.1 NR_102357.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5401023 c.1130C>T p.P377L Chr.4: 22748883-22748883 on Build GRCh38
5401024 c.1130C>T p.P377L Chr.4: 22748883-22748883 on Build GRCh38
3702572 c.1174T>C p.Y392H Chr.4: 22748927-22748927 on Build GRCh38
4159004 c.1200G>C p.L400L Chr.4: 22748953-22748953 on Build GRCh38
4159005 c.1200G>C p.L400L Chr.4: 22748953-22748953 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs867518146 Chr.4: 22748939-22748939 on Build GRCh38
rs542140147 Chr.4: 22748953-22748953 on Build GRCh38
rs560225618 Chr.4: 22748957-22748957 on Build GRCh38
rs765391113 Chr.4: 22748919-22748919 on Build GRCh38
rs751986851 Chr.4: 22748959-22748959 on Build GRCh38
rs781404903 Chr.4: 22748984-22748984 on Build GRCh38
rs574685418 Chr.4: 22748938-22748938 on Build GRCh38
rs969335676 Chr.4: 22749027-22749027 on Build GRCh38
rs918572170 Chr.4: 22748945-22748945 on Build GRCh38
rs1043398318 Chr.4: 22749052-22749052 on Build GRCh38
rs911792202 Chr.4: 22748961-22748961 on Build GRCh38
rs747605129 Chr.4: 22748894-22748894 on Build GRCh38
rs1010610302 Chr.4: 22749046-22749046 on Build GRCh38
rs757679461 Chr.4: 22748980-22748980 on Build GRCh38
rs182924911 Chr.4: 22748993-22748993 on Build GRCh38
rs1003521483 Chr.4: 22749035-22749035 on Build GRCh38
rs900295990 Chr.4: 22749040-22749040 on Build GRCh38
rs199835681 Chr.4: 22748898-22748898 on Build GRCh38
rs962777129 Chr.4: 22748926-22748926 on Build GRCh38
rs765383086 Chr.4: 22748949-22748949 on Build GRCh38
rs929269445 Chr.4: 22748956-22748956 on Build GRCh38
rs376261733 Chr.4: 22748941-22748941 on Build GRCh38
rs772987125 Chr.4: 22748899-22748899 on Build GRCh38
rs1038809326 Chr.4: 22749013-22749013 on Build GRCh38
rs752774657 Chr.4: 22748951-22748951 on Build GRCh38
rs944542681 Chr.4: 22749003-22749003 on Build GRCh38
rs200623163 Chr.4: 22748918-22748918 on Build GRCh38
rs974107910 Chr.4: 22748940-22748940 on Build GRCh38
rs778642024 Chr.4: 22749005-22749005 on Build GRCh38
rs754694196 Chr.4: 22748986-22748986 on Build GRCh38
rs773986898 Chr.4: 22748889-22748889 on Build GRCh38
rs556351409 Chr.4: 22748935-22748935 on Build GRCh38
rs890743453 Chr.4: 22748923-22748923 on Build GRCh38
rs527263502 Chr.4: 22748985-22748985 on Build GRCh38
rs369554051 Chr.4: 22748912-22748912 on Build GRCh38

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