Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62690315-62690566 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
4198992 c.1360C>T p.R454* Chr.11: 62690396-62690396 on Build GRCh38
6613138 c.1361G>A p.R454Q Chr.11: 62690395-62690395 on Build GRCh38
3980508 c.1159G>C p.G387R Chr.11: 62690405-62690405 on Build GRCh38
1492621 c.1119C>T p.A373A Chr.11: 62690445-62690445 on Build GRCh38
2039478 c.1168C>T p.R390* Chr.11: 62690396-62690396 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs538682035 Chr.11: 62690349-62690349 on Build GRCh38
rs1057516190 Chr.11: 62690439-62690439 on Build GRCh38
rs752558297 Chr.11: 62690421-62690421 on Build GRCh38
rs143017094 Chr.11: 62690395-62690395 on Build GRCh38
rs772442281 Chr.11: 62690492-62690492 on Build GRCh38
rs112311529 Chr.11: 62690369-62690369 on Build GRCh38
rs1045933 Chr.11: 62690455-62690455 on Build GRCh38
rs775890636 Chr.11: 62690380-62690380 on Build GRCh38
rs141657385 Chr.11: 62690458-62690458 on Build GRCh38
rs377310581 Chr.11: 62690468-62690468 on Build GRCh38
rs3186041 Chr.11: 62690377-62690377 on Build GRCh38
rs751558047 Chr.11: 62690446-62690446 on Build GRCh38
rs1045944 Chr.11: 62690435-62690435 on Build GRCh38
rs771054711 Chr.11: 62690456-62690457 on Build GRCh38
rs748736063 Chr.11: 62690487-62690487 on Build GRCh38
rs149466797 Chr.11: 62690389-62690389 on Build GRCh38
rs749597554 Chr.11: 62690385-62690385 on Build GRCh38
rs763972632 Chr.11: 62690444-62690444 on Build GRCh38
rs768646836 Chr.11: 62690505-62690505 on Build GRCh38
rs529970386 Chr.11: 62690391-62690391 on Build GRCh38
rs113937239 Chr.11: 62690524-62690524 on Build GRCh38
rs775246044 Chr.11: 62690525-62690525 on Build GRCh38
rs755542483 Chr.11: 62690346-62690346 on Build GRCh38
rs199584887 Chr.11: 62690456-62690456 on Build GRCh38
rs376418772 Chr.11: 62690436-62690436 on Build GRCh38
rs759063057 Chr.11: 62690503-62690503 on Build GRCh38
rs757310587 Chr.11: 62690343-62690343 on Build GRCh38
rs747175358 Chr.11: 62690445-62690446 on Build GRCh38
rs748492948 Chr.11: 62690415-62690415 on Build GRCh38
rs759317218 Chr.11: 62690406-62690406 on Build GRCh38
rs764974038 Chr.11: 62690418-62690418 on Build GRCh38
rs876661160 Chr.11: 62690431-62690431 on Build GRCh38
rs762484263 Chr.11: 62690527-62690527 on Build GRCh38
rs1052004305 Chr.11: 62690459-62690459 on Build GRCh38
rs945376749 Chr.11: 62690344-62690344 on Build GRCh38
rs776687260 Chr.11: 62690457-62690468 on Build GRCh38
rs1004545791 Chr.11: 62690470-62690470 on Build GRCh38
rs779154593 Chr.11: 62690370-62690395 on Build GRCh38
rs776343859 Chr.11: 62690502-62690502 on Build GRCh38
rs779952369 Chr.11: 62690404-62690404 on Build GRCh38
rs3185964 Chr.11: 62690419-62690419 on Build GRCh38
rs145649423 Chr.11: 62690476-62690476 on Build GRCh38
rs769997563 Chr.11: 62690374-62690374 on Build GRCh38
rs199787351 Chr.11: 62690447-62690447 on Build GRCh38
rs772211936 Chr.11: 62690419-62690420 on Build GRCh38
rs369732238 Chr.11: 62690474-62690474 on Build GRCh38
rs138515091 Chr.11: 62690396-62690396 on Build GRCh38
rs778093697 Chr.11: 62690446-62690451 on Build GRCh38
rs746128300 Chr.11: 62690373-62690373 on Build GRCh38
rs769023011 Chr.11: 62690482-62690482 on Build GRCh38
rs779114853 Chr.11: 62690485-62690485 on Build GRCh38
rs769048111 Chr.11: 62690387-62690387 on Build GRCh38

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