Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 62690685-62691179 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
5442056 c.1106C>A p.S369* Chr.11: 62690834-62690834 on Build GRCh38
4165878 c.1154-8G>A p.? Chr.11: 62690700-62690700 on Build GRCh38
3752583 c.945A>G p.E315E Chr.11: 62690803-62690803 on Build GRCh38
5475550 c.961+7C>T p.? Chr.11: 62690780-62690780 on Build GRCh38
5475549 c.1153+7C>T p.? Chr.11: 62690780-62690780 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs199846874 Chr.11: 62690892-62690892 on Build GRCh38
rs756620841 Chr.11: 62691026-62691026 on Build GRCh38
rs762273220 Chr.11: 62690981-62690981 on Build GRCh38
rs763767743 Chr.11: 62691043-62691044 on Build GRCh38
rs771892704 Chr.11: 62690751-62690751 on Build GRCh38
rs778455259 Chr.11: 62690820-62690820 on Build GRCh38
rs149907021 Chr.11: 62690795-62690795 on Build GRCh38
rs776379711 Chr.11: 62690844-62690844 on Build GRCh38
rs759471836 Chr.11: 62690772-62690772 on Build GRCh38
rs569594965 Chr.11: 62690974-62690974 on Build GRCh38
rs781022347 Chr.11: 62691078-62691078 on Build GRCh38
rs140676897 Chr.11: 62691116-62691116 on Build GRCh38
rs959174629 Chr.11: 62690963-62690963 on Build GRCh38
rs144245125 Chr.11: 62690840-62690840 on Build GRCh38
rs757846034 Chr.11: 62690796-62690796 on Build GRCh38
rs765285330 Chr.11: 62690883-62690883 on Build GRCh38
rs750932585 Chr.11: 62691024-62691024 on Build GRCh38
rs1007078676 Chr.11: 62690836-62690836 on Build GRCh38
rs1000536287 Chr.11: 62690867-62690867 on Build GRCh38
rs1042097052 Chr.11: 62691137-62691137 on Build GRCh38
rs752196130 Chr.11: 62691039-62691039 on Build GRCh38
rs879254029 Chr.11: 62691143-62691143 on Build GRCh38
rs374170281 Chr.11: 62690810-62690810 on Build GRCh38
rs1010643563 Chr.11: 62690841-62690841 on Build GRCh38
rs749917957 Chr.11: 62691098-62691098 on Build GRCh38
rs777345816 Chr.11: 62691046-62691046 on Build GRCh38
rs761548202 Chr.11: 62691133-62691135 on Build GRCh38
rs758048150 Chr.11: 62691043-62691043 on Build GRCh38
rs746825449 Chr.11: 62691072-62691072 on Build GRCh38
rs769769807 Chr.11: 62691090-62691090 on Build GRCh38
rs780919400 Chr.11: 62691156-62691156 on Build GRCh38
rs1032927062 Chr.11: 62691154-62691154 on Build GRCh38
rs763070770 Chr.11: 62691099-62691099 on Build GRCh38
rs564980539 Chr.11: 62690766-62690766 on Build GRCh38
rs369798542 Chr.11: 62690771-62690771 on Build GRCh38
rs147902831 Chr.11: 62691130-62691130 on Build GRCh38
rs771698323 Chr.11: 62690834-62690834 on Build GRCh38
rs772516974 Chr.11: 62690793-62690793 on Build GRCh38
rs774675617 Chr.11: 62691101-62691101 on Build GRCh38
rs940924022 Chr.11: 62690967-62690967 on Build GRCh38
rs757647799 Chr.11: 62690922-62690922 on Build GRCh38
rs566153603 Chr.11: 62690995-62690995 on Build GRCh38
rs150914934 Chr.11: 62690797-62690797 on Build GRCh38
rs764682700 Chr.11: 62690851-62690851 on Build GRCh38
rs751277687 Chr.11: 62691052-62691052 on Build GRCh38
rs144725547 Chr.11: 62691125-62691125 on Build GRCh38
rs954968717 Chr.11: 62690946-62690946 on Build GRCh38
rs761151329 Chr.11: 62691122-62691122 on Build GRCh38
rs772967591 Chr.11: 62690759-62690759 on Build GRCh38
rs192386468 Chr.11: 62691014-62691014 on Build GRCh38
rs767820877 Chr.11: 62691114-62691114 on Build GRCh38
rs372844289 Chr.11: 62690738-62690738 on Build GRCh38
rs747846786 Chr.11: 62690829-62690829 on Build GRCh38
rs757850010 Chr.11: 62691131-62691131 on Build GRCh38
rs6856 Chr.11: 62690803-62690803 on Build GRCh38
rs991114344 Chr.11: 62690713-62690713 on Build GRCh38
rs778342612 Chr.11: 62691037-62691037 on Build GRCh38
rs189263719 Chr.11: 62691013-62691013 on Build GRCh38
rs775718358 Chr.11: 62691093-62691093 on Build GRCh38
rs758675404 Chr.11: 62690780-62690780 on Build GRCh38
rs768368743 Chr.11: 62690732-62690732 on Build GRCh38
rs202041376 Chr.11: 62690870-62690870 on Build GRCh38
rs35880442 Chr.11: 62691031-62691032 on Build GRCh38
rs762174973 Chr.11: 62690793-62690794 on Build GRCh38
rs751265217 Chr.11: 62691145-62691145 on Build GRCh38
rs759489687 Chr.11: 62690881-62690881 on Build GRCh38
rs769021944 Chr.11: 62691100-62691100 on Build GRCh38
rs202072835 Chr.11: 62691113-62691113 on Build GRCh38
rs372839524 Chr.11: 62690779-62690779 on Build GRCh38
rs747967927 Chr.11: 62690746-62690746 on Build GRCh38
rs762771072 Chr.11: 62691030-62691031 on Build GRCh38
rs149990643 Chr.11: 62690838-62690838 on Build GRCh38
rs137852974 Chr.11: 62691132-62691132 on Build GRCh38
rs767077492 Chr.11: 62690996-62690996 on Build GRCh38
rs76184645 Chr.11: 62690761-62690761 on Build GRCh38
rs751986246 Chr.11: 62690916-62690916 on Build GRCh38
rs775171620 Chr.11: 62690896-62690896 on Build GRCh38
rs765531343 Chr.11: 62690775-62690775 on Build GRCh38
rs1032959504 Chr.11: 62690890-62690890 on Build GRCh38
rs774884715 Chr.11: 62690979-62690979 on Build GRCh38
rs768100801 Chr.11: 62690923-62690923 on Build GRCh38
rs745853578 Chr.11: 62691079-62691079 on Build GRCh38
rs748680075 Chr.11: 62690715-62690715 on Build GRCh38
rs368900617 Chr.11: 62690802-62690802 on Build GRCh38
rs777430457 Chr.11: 62691142-62691142 on Build GRCh38
rs764346217 Chr.11: 62690913-62690913 on Build GRCh38
rs971434171 Chr.11: 62690900-62690900 on Build GRCh38
rs763335850 Chr.11: 62690908-62690908 on Build GRCh38
rs990671786 Chr.11: 62690973-62690973 on Build GRCh38
rs746737457 Chr.11: 62690839-62690839 on Build GRCh38
rs113336810 Chr.11: 62691076-62691076 on Build GRCh38
rs199558387 Chr.11: 62690784-62690784 on Build GRCh38

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