Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62691202-62691708 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
5189568 c.748G>A p.V250M Chr.11: 62691345-62691345 on Build GRCh38
5024264 c.913A>C p.S305R Chr.11: 62691372-62691372 on Build GRCh38
3451073 c.691C>T p.P231S Chr.11: 62691402-62691402 on Build GRCh38
4034868 c.866A>G p.Y289C Chr.11: 62691419-62691419 on Build GRCh38
5115768 c.786C>A p.I262I Chr.11: 62691307-62691307 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs202236844 Chr.11: 62691466-62691466 on Build GRCh38
rs748138614 Chr.11: 62691679-62691679 on Build GRCh38
rs747361384 Chr.11: 62691298-62691298 on Build GRCh38
rs181292902 Chr.11: 62691544-62691544 on Build GRCh38
rs755560879 Chr.11: 62691389-62691390 on Build GRCh38
rs1055757161 Chr.11: 62691562-62691562 on Build GRCh38
rs749890533 Chr.11: 62691310-62691311 on Build GRCh38
rs369511412 Chr.11: 62691330-62691330 on Build GRCh38
rs935812889 Chr.11: 62691402-62691402 on Build GRCh38
rs898302547 Chr.11: 62691665-62691665 on Build GRCh38
rs778830171 Chr.11: 62691487-62691487 on Build GRCh38
rs760470794 Chr.11: 62691419-62691419 on Build GRCh38
rs779432443 Chr.11: 62691430-62691430 on Build GRCh38
rs994427753 Chr.11: 62691675-62691675 on Build GRCh38
rs946220277 Chr.11: 62691434-62691434 on Build GRCh38
rs753697653 Chr.11: 62691441-62691441 on Build GRCh38
rs760106114 Chr.11: 62691312-62691312 on Build GRCh38
rs779199750 Chr.11: 62691281-62691281 on Build GRCh38
rs755805325 Chr.11: 62691343-62691343 on Build GRCh38
rs1012486553 Chr.11: 62691260-62691260 on Build GRCh38
rs760018031 Chr.11: 62691258-62691258 on Build GRCh38
rs758243251 Chr.11: 62691467-62691467 on Build GRCh38
rs748190546 Chr.11: 62691289-62691289 on Build GRCh38
rs754969234 Chr.11: 62691350-62691350 on Build GRCh38
rs183671101 Chr.11: 62691477-62691477 on Build GRCh38
rs187994355 Chr.11: 62691488-62691488 on Build GRCh38
rs752716760 Chr.11: 62691456-62691456 on Build GRCh38
rs373415530 Chr.11: 62691468-62691468 on Build GRCh38
rs761339151 Chr.11: 62691313-62691313 on Build GRCh38
rs758460754 Chr.11: 62691362-62691362 on Build GRCh38
rs1015417575 Chr.11: 62691523-62691523 on Build GRCh38
rs786205073 Chr.11: 62691424-62691424 on Build GRCh38
rs773451503 Chr.11: 62691229-62691229 on Build GRCh38
rs864622631 Chr.11: 62691272-62691272 on Build GRCh38
rs374900243 Chr.11: 62691452-62691452 on Build GRCh38
rs1006330893 Chr.11: 62691610-62691610 on Build GRCh38
rs973506778 Chr.11: 62691576-62691576 on Build GRCh38
rs201229787 Chr.11: 62691293-62691293 on Build GRCh38
rs767141751 Chr.11: 62691269-62691269 on Build GRCh38
rs786204131 Chr.11: 62691403-62691403 on Build GRCh38
rs962501421 Chr.11: 62691266-62691266 on Build GRCh38
rs773431994 Chr.11: 62691294-62691294 on Build GRCh38
rs200300686 Chr.11: 62691346-62691346 on Build GRCh38
rs962184464 Chr.11: 62691543-62691543 on Build GRCh38
rs367783346 Chr.11: 62691317-62691317 on Build GRCh38
rs767104988 Chr.11: 62691415-62691415 on Build GRCh38
rs753679234 Chr.11: 62691348-62691348 on Build GRCh38
rs1041843205 Chr.11: 62691364-62691364 on Build GRCh38
rs776027981 Chr.11: 62691398-62691398 on Build GRCh38
rs766061024 Chr.11: 62691423-62691423 on Build GRCh38
rs771142315 Chr.11: 62691376-62691376 on Build GRCh38
rs748195771 Chr.11: 62691352-62691352 on Build GRCh38
rs754300299 Chr.11: 62691256-62691256 on Build GRCh38
rs756868020 Chr.11: 62691265-62691265 on Build GRCh38
rs559783362 Chr.11: 62691400-62691400 on Build GRCh38
rs141377075 Chr.11: 62691390-62691390 on Build GRCh38
rs367731146 Chr.11: 62691276-62691276 on Build GRCh38
rs761040447 Chr.11: 62691240-62691240 on Build GRCh38
rs1054299613 Chr.11: 62691414-62691414 on Build GRCh38
rs750210178 Chr.11: 62691270-62691270 on Build GRCh38
rs587777606 Chr.11: 62691300-62691300 on Build GRCh38
rs35983545 Chr.11: 62691474-62691475 on Build GRCh38
rs765115833 Chr.11: 62691454-62691454 on Build GRCh38
rs916916343 Chr.11: 62691345-62691345 on Build GRCh38
rs759353968 Chr.11: 62691448-62691448 on Build GRCh38
rs373597298 Chr.11: 62691245-62691245 on Build GRCh38
rs1017168489 Chr.11: 62691614-62691614 on Build GRCh38
rs894549947 Chr.11: 62691607-62691607 on Build GRCh38
rs529948590 Chr.11: 62691500-62691500 on Build GRCh38
rs772582974 Chr.11: 62691417-62691417 on Build GRCh38
rs747317954 Chr.11: 62691373-62691373 on Build GRCh38
rs1028965003 Chr.11: 62691445-62691445 on Build GRCh38
rs770308765 Chr.11: 62691395-62691395 on Build GRCh38
rs776986432 Chr.11: 62691383-62691383 on Build GRCh38
rs754683462 Chr.11: 62691351-62691351 on Build GRCh38
rs751077790 Chr.11: 62691261-62691261 on Build GRCh38
rs771322168 Chr.11: 62691299-62691299 on Build GRCh38
rs372166360 Chr.11: 62691277-62691277 on Build GRCh38

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