Product Details

Primer Sequences

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Primer Chromosome Location

Chr.11: 62690673-62690898 on Build GRCh38 View in UCSC browser

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

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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
6613136	c.1167C>T	p.S389S	Chr.11: 62690679-62690679 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
6837947	c.1073-6G>A	p.?	Chr.11: 62690873-62690873 on Build GRCh38
5475549	c.1153+7C>T	p.?	Chr.11: 62690780-62690780 on Build GRCh38
5442057	c.914C>A	p.S305*	Chr.11: 62690834-62690834 on Build GRCh38
4574592	c.1147G>A	p.G383R	Chr.11: 62690793-62690793 on Build GRCh38
5923899	c.950C>T	p.P317L	Chr.11: 62690798-62690798 on Build GRCh38
5920064	c.1120G>A	p.D374N	Chr.11: 62690820-62690820 on Build GRCh38
1191692	c.890G>T	p.G297V	Chr.11: 62690858-62690858 on Build GRCh38
5920065	c.928G>A	p.D310N	Chr.11: 62690820-62690820 on Build GRCh38
429463	c.886G>A	p.E296K	Chr.11: 62690862-62690862 on Build GRCh38
1355449	c.961G>T	p.E321*	Chr.11: 62690787-62690787 on Build GRCh38
5970253	c.952T>C	p.S318P	Chr.11: 62690796-62690796 on Build GRCh38
4165879	c.962-8G>A	p.?	Chr.11: 62690700-62690700 on Build GRCh38
5923898	c.1142C>T	p.P381L	Chr.11: 62690798-62690798 on Build GRCh38
4574593	c.955G>A	p.G319R	Chr.11: 62690793-62690793 on Build GRCh38
4783249	c.1153G>T	p.E385*	Chr.11: 62690787-62690787 on Build GRCh38
5970252	c.1144T>C	p.S382P	Chr.11: 62690796-62690796 on Build GRCh38
467149	c.967C>G	p.Q323E	Chr.11: 62690687-62690687 on Build GRCh38
4815139	c.1078G>A	p.E360K	Chr.11: 62690862-62690862 on Build GRCh38
6498964	c.934G>A	p.E312K	Chr.11: 62690814-62690814 on Build GRCh38
3752582	c.1137A>G	p.E379E	Chr.11: 62690803-62690803 on Build GRCh38
6837948	c.881-6G>A	p.?	Chr.11: 62690873-62690873 on Build GRCh38
6498963	c.1126G>A	p.E376K	Chr.11: 62690814-62690814 on Build GRCh38
6613137	c.975C>T	p.S325S	Chr.11: 62690679-62690679 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs772967591	Chr.11: 62690759-62690759 on Build GRCh38
rs747846786	Chr.11: 62690829-62690829 on Build GRCh38
rs372844289	Chr.11: 62690738-62690738 on Build GRCh38
rs6856	Chr.11: 62690803-62690803 on Build GRCh38
rs991114344	Chr.11: 62690713-62690713 on Build GRCh38
rs771892704	Chr.11: 62690751-62690751 on Build GRCh38
rs776379711	Chr.11: 62690844-62690844 on Build GRCh38
rs778455259	Chr.11: 62690820-62690820 on Build GRCh38
rs149907021	Chr.11: 62690795-62690795 on Build GRCh38
rs768368743	Chr.11: 62690732-62690732 on Build GRCh38
rs758675404	Chr.11: 62690780-62690780 on Build GRCh38
rs202041376	Chr.11: 62690870-62690870 on Build GRCh38
rs759471836	Chr.11: 62690772-62690772 on Build GRCh38
rs762174973	Chr.11: 62690793-62690794 on Build GRCh38
rs144245125	Chr.11: 62690840-62690840 on Build GRCh38
rs757846034	Chr.11: 62690796-62690796 on Build GRCh38
rs372839524	Chr.11: 62690779-62690779 on Build GRCh38
rs1007078676	Chr.11: 62690836-62690836 on Build GRCh38
rs1000536287	Chr.11: 62690867-62690867 on Build GRCh38
rs747967927	Chr.11: 62690746-62690746 on Build GRCh38
rs149990643	Chr.11: 62690838-62690838 on Build GRCh38
rs76184645	Chr.11: 62690761-62690761 on Build GRCh38
rs374170281	Chr.11: 62690810-62690810 on Build GRCh38
rs1010643563	Chr.11: 62690841-62690841 on Build GRCh38
rs564980539	Chr.11: 62690766-62690766 on Build GRCh38
rs369798542	Chr.11: 62690771-62690771 on Build GRCh38
rs765531343	Chr.11: 62690775-62690775 on Build GRCh38
rs748680075	Chr.11: 62690715-62690715 on Build GRCh38
rs368900617	Chr.11: 62690802-62690802 on Build GRCh38
rs771698323	Chr.11: 62690834-62690834 on Build GRCh38
rs772516974	Chr.11: 62690793-62690793 on Build GRCh38
rs150914934	Chr.11: 62690797-62690797 on Build GRCh38
rs746737457	Chr.11: 62690839-62690839 on Build GRCh38
rs764682700	Chr.11: 62690851-62690851 on Build GRCh38
rs199558387	Chr.11: 62690784-62690784 on Build GRCh38

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