Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62690178-62690683 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
6837945 c.1183G>C p.D395H Chr.11: 62690663-62690663 on Build GRCh38
4815137 c.1183G>A p.D395N Chr.11: 62690663-62690663 on Build GRCh38
3451068 c.1206A>G p.E402E Chr.11: 62690640-62690640 on Build GRCh38
6613138 c.1361G>A p.R454Q Chr.11: 62690395-62690395 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs748453195 Chr.11: 62690593-62690593 on Build GRCh38
rs538682035 Chr.11: 62690349-62690349 on Build GRCh38
rs576081892 Chr.11: 62690319-62690319 on Build GRCh38
rs1057516190 Chr.11: 62690439-62690439 on Build GRCh38
rs772442281 Chr.11: 62690492-62690492 on Build GRCh38
rs780284832 Chr.11: 62690576-62690576 on Build GRCh38
rs1045933 Chr.11: 62690455-62690455 on Build GRCh38
rs141657385 Chr.11: 62690458-62690458 on Build GRCh38
rs764649212 Chr.11: 62690308-62690308 on Build GRCh38
rs3186041 Chr.11: 62690377-62690377 on Build GRCh38
rs138964424 Chr.11: 62690645-62690645 on Build GRCh38
rs764000384 Chr.11: 62690538-62690538 on Build GRCh38
rs374197154 Chr.11: 62690600-62690600 on Build GRCh38
rs1045944 Chr.11: 62690435-62690435 on Build GRCh38
rs771059313 Chr.11: 62690226-62690226 on Build GRCh38
rs749597554 Chr.11: 62690385-62690385 on Build GRCh38
rs768646836 Chr.11: 62690505-62690505 on Build GRCh38
rs763972632 Chr.11: 62690444-62690444 on Build GRCh38
rs765167711 Chr.11: 62690317-62690317 on Build GRCh38
rs755542483 Chr.11: 62690346-62690346 on Build GRCh38
rs766492897 Chr.11: 62690646-62690646 on Build GRCh38
rs563653317 Chr.11: 62690634-62690634 on Build GRCh38
rs763517904 Chr.11: 62690297-62690297 on Build GRCh38
rs201532363 Chr.11: 62690561-62690561 on Build GRCh38
rs985453850 Chr.11: 62690207-62690207 on Build GRCh38
rs759317218 Chr.11: 62690406-62690406 on Build GRCh38
rs746251225 Chr.11: 62690256-62690256 on Build GRCh38
rs764974038 Chr.11: 62690418-62690418 on Build GRCh38
rs998320931 Chr.11: 62690556-62690556 on Build GRCh38
rs945376749 Chr.11: 62690344-62690344 on Build GRCh38
rs547938973 Chr.11: 62690573-62690573 on Build GRCh38
rs779154593 Chr.11: 62690370-62690395 on Build GRCh38
rs776343859 Chr.11: 62690502-62690502 on Build GRCh38
rs749872089 Chr.11: 62690262-62690262 on Build GRCh38
rs775798921 Chr.11: 62690296-62690296 on Build GRCh38
rs913329942 Chr.11: 62690312-62690312 on Build GRCh38
rs957459239 Chr.11: 62690293-62690293 on Build GRCh38
rs770191886 Chr.11: 62690283-62690283 on Build GRCh38
rs776869465 Chr.11: 62690249-62690249 on Build GRCh38
rs566951883 Chr.11: 62690289-62690289 on Build GRCh38
rs998374801 Chr.11: 62690202-62690202 on Build GRCh38
rs747087493 Chr.11: 62690326-62690326 on Build GRCh38
rs199787351 Chr.11: 62690447-62690447 on Build GRCh38
rs769506704 Chr.11: 62690559-62690559 on Build GRCh38
rs147311459 Chr.11: 62690579-62690579 on Build GRCh38
rs755130483 Chr.11: 62690578-62690578 on Build GRCh38
rs778093697 Chr.11: 62690446-62690451 on Build GRCh38
rs746128300 Chr.11: 62690373-62690373 on Build GRCh38
rs535829182 Chr.11: 62690313-62690313 on Build GRCh38
rs779114853 Chr.11: 62690485-62690485 on Build GRCh38
rs769048111 Chr.11: 62690387-62690387 on Build GRCh38
rs751300763 Chr.11: 62690546-62690546 on Build GRCh38
rs755290954 Chr.11: 62690650-62690650 on Build GRCh38
rs778380128 Chr.11: 62690598-62690598 on Build GRCh38
rs752558297 Chr.11: 62690421-62690421 on Build GRCh38
rs369813738 Chr.11: 62690601-62690601 on Build GRCh38
rs143017094 Chr.11: 62690395-62690395 on Build GRCh38
rs550319206 Chr.11: 62690205-62690205 on Build GRCh38
rs112311529 Chr.11: 62690369-62690369 on Build GRCh38
rs774201363 Chr.11: 62690621-62690621 on Build GRCh38
rs775890636 Chr.11: 62690380-62690380 on Build GRCh38
rs377310581 Chr.11: 62690468-62690468 on Build GRCh38
rs567462672 Chr.11: 62690310-62690310 on Build GRCh38
rs753846718 Chr.11: 62690649-62690649 on Build GRCh38
rs751558047 Chr.11: 62690446-62690446 on Build GRCh38
rs748736063 Chr.11: 62690487-62690487 on Build GRCh38
rs771054711 Chr.11: 62690456-62690457 on Build GRCh38
rs149466797 Chr.11: 62690389-62690389 on Build GRCh38
rs368144792 Chr.11: 62690318-62690318 on Build GRCh38
rs113937239 Chr.11: 62690524-62690524 on Build GRCh38
rs529970386 Chr.11: 62690391-62690391 on Build GRCh38
rs775246044 Chr.11: 62690525-62690525 on Build GRCh38
rs199584887 Chr.11: 62690456-62690456 on Build GRCh38
rs759063057 Chr.11: 62690503-62690503 on Build GRCh38
rs376418772 Chr.11: 62690436-62690436 on Build GRCh38
rs747048477 Chr.11: 62690222-62690222 on Build GRCh38
rs753131873 Chr.11: 62690659-62690659 on Build GRCh38
rs113229350 Chr.11: 62690592-62690592 on Build GRCh38
rs757310587 Chr.11: 62690343-62690343 on Build GRCh38
rs747175358 Chr.11: 62690445-62690446 on Build GRCh38
rs954287766 Chr.11: 62690206-62690206 on Build GRCh38
rs748492948 Chr.11: 62690415-62690415 on Build GRCh38
rs370410858 Chr.11: 62690572-62690572 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
rs776687260 Chr.11: 62690457-62690468 on Build GRCh38
rs1004545791 Chr.11: 62690470-62690470 on Build GRCh38
rs768191284 Chr.11: 62690616-62690616 on Build GRCh38
rs925294616 Chr.11: 62690626-62690626 on Build GRCh38
rs755714656 Chr.11: 62690309-62690309 on Build GRCh38
rs779952369 Chr.11: 62690404-62690404 on Build GRCh38
rs957573465 Chr.11: 62690597-62690597 on Build GRCh38
rs3185964 Chr.11: 62690419-62690419 on Build GRCh38
rs200631909 Chr.11: 62690605-62690605 on Build GRCh38
rs778931376 Chr.11: 62690653-62690653 on Build GRCh38
rs145649423 Chr.11: 62690476-62690476 on Build GRCh38
rs769997563 Chr.11: 62690374-62690374 on Build GRCh38
rs762726296 Chr.11: 62690606-62690606 on Build GRCh38
rs374017840 Chr.11: 62690315-62690315 on Build GRCh38
rs777695987 Chr.11: 62690321-62690321 on Build GRCh38
rs772211936 Chr.11: 62690419-62690420 on Build GRCh38
rs556562410 Chr.11: 62690634-62690636 on Build GRCh38
rs927876804 Chr.11: 62690332-62690332 on Build GRCh38
rs369732238 Chr.11: 62690474-62690474 on Build GRCh38
rs138515091 Chr.11: 62690396-62690396 on Build GRCh38
rs769023011 Chr.11: 62690482-62690482 on Build GRCh38
rs767463971 Chr.11: 62690644-62690644 on Build GRCh38

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