Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62692708-62692939 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
7198342 c.511G>A p.G171S Chr.11: 62692725-62692725 on Build GRCh38
4875404 c.647G>A p.R216H Chr.11: 62692781-62692781 on Build GRCh38
929791 c.455G>A p.R152H Chr.11: 62692781-62692781 on Build GRCh38
7198341 c.703G>A p.G235S Chr.11: 62692725-62692725 on Build GRCh38
4666275 c.454C>T p.R152C Chr.11: 62692782-62692782 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs995016248 Chr.11: 62692741-62692741 on Build GRCh38
rs772019272 Chr.11: 62692821-62692821 on Build GRCh38
rs899302880 Chr.11: 62692735-62692735 on Build GRCh38
rs758991179 Chr.11: 62692737-62692737 on Build GRCh38
rs776756296 Chr.11: 62692836-62692836 on Build GRCh38
rs978628541 Chr.11: 62692887-62692887 on Build GRCh38
rs768294248 Chr.11: 62692803-62692803 on Build GRCh38
rs771074843 Chr.11: 62692752-62692753 on Build GRCh38
rs934620149 Chr.11: 62692909-62692909 on Build GRCh38
rs376285926 Chr.11: 62692824-62692824 on Build GRCh38
rs368966870 Chr.11: 62692833-62692833 on Build GRCh38
rs778378228 Chr.11: 62692739-62692739 on Build GRCh38
rs1045796236 Chr.11: 62692893-62692893 on Build GRCh38
rs544020840 Chr.11: 62692787-62692787 on Build GRCh38
rs755623017 Chr.11: 62692762-62692762 on Build GRCh38
rs987465261 Chr.11: 62692797-62692797 on Build GRCh38
rs778683153 Chr.11: 62692810-62692810 on Build GRCh38
rs551158812 Chr.11: 62692894-62692894 on Build GRCh38
rs745419166 Chr.11: 62692744-62692744 on Build GRCh38
rs950978890 Chr.11: 62692768-62692768 on Build GRCh38
rs947171594 Chr.11: 62692875-62692875 on Build GRCh38
rs781262519 Chr.11: 62692843-62692844 on Build GRCh38
rs145513197 Chr.11: 62692829-62692829 on Build GRCh38
rs35459265 Chr.11: 62692817-62692817 on Build GRCh38
rs747877864 Chr.11: 62692811-62692811 on Build GRCh38
rs915347129 Chr.11: 62692859-62692859 on Build GRCh38

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