Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62694568-62695112 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
BSCL2
Entrez Gene ID
26580
Gene Name
BSCL2, seipin lipid droplet biogenesis associated
Gene Aliases
GNG3LG, HMN5, PELD, SPG17
UniGene
Hs.533709
Gene Chromosome Location
Chr.11: 62690262-62709619 on Build GRCh38
Transcripts
NM_001122955.3 NM_001130702.2 NM_032667.6 NR_037948.1 NR_037949.1 NR_037946.1

Gene Symbol
HNRNPUL2-BSCL2
Entrez Gene ID
100534595
Gene Name
HNRNPUL2-BSCL2 readthrough (NMD candidate)
Gene Aliases
-
UniGene
Hs.533709
Gene Chromosome Location
Chr.11: 62690262-62727384 on Build GRCh38
Transcripts
NM_001122955.3 NM_001130702.2 NM_032667.6 NR_037948.1 NR_037949.1 NR_037946.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
348498 c.428C>A p.S143Y Chr.11: 62694578-62694578 on Build GRCh38
6873301 c.387C>T p.T129T Chr.11: 62694619-62694619 on Build GRCh38
5015014 c.626G>A p.R209H Chr.11: 62694572-62694572 on Build GRCh38
5093614 c.313C>T p.P105S Chr.11: 62694693-62694693 on Build GRCh38
6991995 c.298C>G p.L100V Chr.11: 62694708-62694708 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs761148260 Chr.11: 62694733-62694733 on Build GRCh38
rs539928768 Chr.11: 62694962-62694962 on Build GRCh38
rs567056233 Chr.11: 62694787-62694787 on Build GRCh38
rs189771133 Chr.11: 62694725-62694725 on Build GRCh38
rs953287071 Chr.11: 62694869-62694869 on Build GRCh38
rs772476337 Chr.11: 62694675-62694675 on Build GRCh38
rs905283494 Chr.11: 62694743-62694743 on Build GRCh38
rs1048914074 Chr.11: 62695067-62695067 on Build GRCh38
rs377609967 Chr.11: 62694686-62694686 on Build GRCh38
rs771534001 Chr.11: 62694593-62694593 on Build GRCh38
rs781147014 Chr.11: 62694687-62694687 on Build GRCh38
rs889074628 Chr.11: 62694935-62694935 on Build GRCh38
rs965661235 Chr.11: 62694816-62694816 on Build GRCh38
rs1004834015 Chr.11: 62694785-62694785 on Build GRCh38
rs918171941 Chr.11: 62695001-62695001 on Build GRCh38
rs141505917 Chr.11: 62695011-62695011 on Build GRCh38
rs776794772 Chr.11: 62694784-62694784 on Build GRCh38
rs961372907 Chr.11: 62695081-62695082 on Build GRCh38
rs752195952 Chr.11: 62694744-62694744 on Build GRCh38
rs786205070 Chr.11: 62694690-62694691 on Build GRCh38
rs115756273 Chr.11: 62694731-62694731 on Build GRCh38
rs752392333 Chr.11: 62694672-62694672 on Build GRCh38
rs751344036 Chr.11: 62694760-62694760 on Build GRCh38
rs75335074 Chr.11: 62694761-62694761 on Build GRCh38
rs758029688 Chr.11: 62694673-62694673 on Build GRCh38
rs997188156 Chr.11: 62695089-62695089 on Build GRCh38
rs749589212 Chr.11: 62694711-62694711 on Build GRCh38
rs2845671 Chr.11: 62694840-62694840 on Build GRCh38
rs575232581 Chr.11: 62694795-62694795 on Build GRCh38
rs775329987 Chr.11: 62694975-62694975 on Build GRCh38
rs786205069 Chr.11: 62694704-62694705 on Build GRCh38
rs587777608 Chr.11: 62694685-62694689 on Build GRCh38
rs571672404 Chr.11: 62694613-62694613 on Build GRCh38
rs553631253 Chr.11: 62695076-62695076 on Build GRCh38
rs753309219 Chr.11: 62694652-62694652 on Build GRCh38
rs751948915 Chr.11: 62694641-62694641 on Build GRCh38
rs764780659 Chr.11: 62694739-62694739 on Build GRCh38
rs1036244218 Chr.11: 62695080-62695080 on Build GRCh38
rs926726513 Chr.11: 62695042-62695042 on Build GRCh38
rs150874048 Chr.11: 62695027-62695027 on Build GRCh38
rs768857448 Chr.11: 62694720-62694720 on Build GRCh38
rs946557886 Chr.11: 62694859-62694859 on Build GRCh38
rs775539636 Chr.11: 62694744-62694745 on Build GRCh38
rs587777607 Chr.11: 62694660-62694660 on Build GRCh38
rs769651547 Chr.11: 62694737-62694738 on Build GRCh38
rs878855171 Chr.11: 62694693-62694693 on Build GRCh38
rs866152170 Chr.11: 62694763-62694763 on Build GRCh38
rs987873546 Chr.11: 62695072-62695075 on Build GRCh38
rs369806785 Chr.11: 62694610-62694610 on Build GRCh38
rs777493184 Chr.11: 62694685-62694685 on Build GRCh38
rs786205071 Chr.11: 62694680-62694681 on Build GRCh38
rs1028732834 Chr.11: 62694841-62694841 on Build GRCh38
rs775698241 Chr.11: 62694710-62694710 on Build GRCh38
rs573873334 Chr.11: 62695002-62695002 on Build GRCh38
rs886048442 Chr.11: 62694654-62694654 on Build GRCh38
rs1025713056 Chr.11: 62694999-62694999 on Build GRCh38
rs72929424 Chr.11: 62695074-62695074 on Build GRCh38
rs577326228 Chr.11: 62694957-62694957 on Build GRCh38
rs960682065 Chr.11: 62695060-62695060 on Build GRCh38
rs555355533 Chr.11: 62694794-62694794 on Build GRCh38
rs969671073 Chr.11: 62695036-62695036 on Build GRCh38
rs374507554 Chr.11: 62694643-62694643 on Build GRCh38
rs137852970 Chr.11: 62694594-62694594 on Build GRCh38
rs181164682 Chr.11: 62694745-62694745 on Build GRCh38
rs1006933787 Chr.11: 62694654-62694654 on Build GRCh38
rs768008962 Chr.11: 62694651-62694651 on Build GRCh38
rs565244526 Chr.11: 62695084-62695084 on Build GRCh38
rs904506245 Chr.11: 62694624-62694624 on Build GRCh38
rs532005388 Chr.11: 62695038-62695038 on Build GRCh38
rs969456557 Chr.11: 62694766-62694766 on Build GRCh38
rs763741756 Chr.11: 62694752-62694752 on Build GRCh38
rs371113921 Chr.11: 62694701-62694701 on Build GRCh38
rs760613992 Chr.11: 62694666-62694666 on Build GRCh38
rs925481695 Chr.11: 62694920-62694920 on Build GRCh38
rs559217287 Chr.11: 62694902-62694902 on Build GRCh38
rs980471292 Chr.11: 62694789-62694790 on Build GRCh38
rs764043884 Chr.11: 62695045-62695045 on Build GRCh38
rs764424992 Chr.11: 62694619-62694619 on Build GRCh38
rs1043584549 Chr.11: 62695081-62695081 on Build GRCh38
rs145393127 Chr.11: 62694691-62694691 on Build GRCh38
rs778171363 Chr.11: 62694698-62694698 on Build GRCh38
rs927665250 Chr.11: 62695052-62695052 on Build GRCh38
rs762186744 Chr.11: 62694730-62694730 on Build GRCh38
rs76541361 Chr.11: 62694966-62694966 on Build GRCh38
rs913726072 Chr.11: 62694845-62694845 on Build GRCh38

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