Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62691030-62691261 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
4917706 c.830G>A p.R277K Chr.11: 62691125-62691125 on Build GRCh38
6069848 c.834C>G p.D278E Chr.11: 62691121-62691121 on Build GRCh38
7191650 c.849A>G p.E283E Chr.11: 62691106-62691106 on Build GRCh38
2039487 c.823C>T p.R275* Chr.11: 62691132-62691132 on Build GRCh38
4457126 c.841C>T p.R281W Chr.11: 62691114-62691114 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs144725547 Chr.11: 62691125-62691125 on Build GRCh38
rs751277687 Chr.11: 62691052-62691052 on Build GRCh38
rs761151329 Chr.11: 62691122-62691122 on Build GRCh38
rs767820877 Chr.11: 62691114-62691114 on Build GRCh38
rs757850010 Chr.11: 62691131-62691131 on Build GRCh38
rs775718358 Chr.11: 62691093-62691093 on Build GRCh38
rs996146103 Chr.11: 62691197-62691197 on Build GRCh38
rs781022347 Chr.11: 62691078-62691078 on Build GRCh38
rs140676897 Chr.11: 62691116-62691116 on Build GRCh38
rs751265217 Chr.11: 62691145-62691145 on Build GRCh38
rs769021944 Chr.11: 62691100-62691100 on Build GRCh38
rs202072835 Chr.11: 62691113-62691113 on Build GRCh38
rs769634865 Chr.11: 62691178-62691178 on Build GRCh38
rs1042097052 Chr.11: 62691137-62691137 on Build GRCh38
rs780091146 Chr.11: 62691180-62691180 on Build GRCh38
rs137852974 Chr.11: 62691132-62691132 on Build GRCh38
rs772333066 Chr.11: 62691192-62691192 on Build GRCh38
rs72929419 Chr.11: 62691191-62691191 on Build GRCh38
rs879254029 Chr.11: 62691143-62691143 on Build GRCh38
rs745611044 Chr.11: 62691161-62691161 on Build GRCh38
rs749917957 Chr.11: 62691098-62691098 on Build GRCh38
rs761548202 Chr.11: 62691133-62691135 on Build GRCh38
rs774550729 Chr.11: 62691190-62691190 on Build GRCh38
rs767206834 Chr.11: 62691188-62691191 on Build GRCh38
rs746825449 Chr.11: 62691072-62691072 on Build GRCh38
rs1032927062 Chr.11: 62691154-62691154 on Build GRCh38
rs780919400 Chr.11: 62691156-62691156 on Build GRCh38
rs769769807 Chr.11: 62691090-62691090 on Build GRCh38
rs763070770 Chr.11: 62691099-62691099 on Build GRCh38
rs773451503 Chr.11: 62691229-62691229 on Build GRCh38
rs147902831 Chr.11: 62691130-62691130 on Build GRCh38
rs745853578 Chr.11: 62691079-62691079 on Build GRCh38
rs1034356900 Chr.11: 62691210-62691210 on Build GRCh38
rs777430457 Chr.11: 62691142-62691142 on Build GRCh38
rs774675617 Chr.11: 62691101-62691101 on Build GRCh38
rs368086273 Chr.11: 62691181-62691181 on Build GRCh38
rs1028999797 Chr.11: 62691209-62691209 on Build GRCh38
rs768896917 Chr.11: 62691184-62691184 on Build GRCh38
rs954792600 Chr.11: 62691218-62691218 on Build GRCh38
rs113336810 Chr.11: 62691076-62691076 on Build GRCh38

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