Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62694509-62694780 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
rs376639703 Chr.11: 62694542-62694542 on Build GRCh38
rs189771133 Chr.11: 62694725-62694725 on Build GRCh38
rs772476337 Chr.11: 62694675-62694675 on Build GRCh38
rs905283494 Chr.11: 62694743-62694743 on Build GRCh38
rs377609967 Chr.11: 62694686-62694686 on Build GRCh38
rs771534001 Chr.11: 62694593-62694593 on Build GRCh38
rs777598096 Chr.11: 62694577-62694577 on Build GRCh38
rs150158560 Chr.11: 62694568-62694568 on Build GRCh38
rs781147014 Chr.11: 62694687-62694687 on Build GRCh38
rs747968134 Chr.11: 62694570-62694570 on Build GRCh38
rs778486956 Chr.11: 62694569-62694569 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
rs758029688 Chr.11: 62694673-62694673 on Build GRCh38
rs746973203 Chr.11: 62694578-62694578 on Build GRCh38
rs749589212 Chr.11: 62694711-62694711 on Build GRCh38
rs759642646 Chr.11: 62694588-62694588 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
rs751948915 Chr.11: 62694641-62694641 on Build GRCh38
rs753309219 Chr.11: 62694652-62694652 on Build GRCh38
rs764780659 Chr.11: 62694739-62694739 on Build GRCh38
rs768857448 Chr.11: 62694720-62694720 on Build GRCh38
rs775539636 Chr.11: 62694744-62694745 on Build GRCh38
rs769651547 Chr.11: 62694737-62694738 on Build GRCh38
rs587777607 Chr.11: 62694660-62694660 on Build GRCh38
rs752056113 Chr.11: 62694552-62694552 on Build GRCh38
rs878855171 Chr.11: 62694693-62694693 on Build GRCh38
rs745900103 Chr.11: 62694562-62694565 on Build GRCh38
rs199567191 Chr.11: 62694554-62694554 on Build GRCh38
rs369806785 Chr.11: 62694610-62694610 on Build GRCh38
rs777493184 Chr.11: 62694685-62694685 on Build GRCh38
rs765501396 Chr.11: 62694541-62694541 on Build GRCh38
rs886048442 Chr.11: 62694654-62694654 on Build GRCh38
rs775698241 Chr.11: 62694710-62694710 on Build GRCh38
rs786205071 Chr.11: 62694680-62694681 on Build GRCh38
rs761073584 Chr.11: 62694534-62694534 on Build GRCh38
rs137852970 Chr.11: 62694594-62694594 on Build GRCh38
rs374507554 Chr.11: 62694643-62694643 on Build GRCh38
rs181164682 Chr.11: 62694745-62694745 on Build GRCh38
rs768008962 Chr.11: 62694651-62694651 on Build GRCh38
rs1006933787 Chr.11: 62694654-62694654 on Build GRCh38
rs904506245 Chr.11: 62694624-62694624 on Build GRCh38
rs138532996 Chr.11: 62694574-62694574 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
rs779498581 Chr.11: 62694557-62694557 on Build GRCh38
rs763374609 Chr.11: 62694543-62694543 on Build GRCh38
rs764424992 Chr.11: 62694619-62694619 on Build GRCh38
rs1045195404 Chr.11: 62694554-62694556 on Build GRCh38
rs140208002 Chr.11: 62694583-62694583 on Build GRCh38
rs770894326 Chr.11: 62694582-62694582 on Build GRCh38
rs778171363 Chr.11: 62694698-62694698 on Build GRCh38
rs145393127 Chr.11: 62694691-62694691 on Build GRCh38
rs762186744 Chr.11: 62694730-62694730 on Build GRCh38
rs906321138 Chr.11: 62694563-62694563 on Build GRCh38
rs764526052 Chr.11: 62694547-62694547 on Build GRCh38

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