Product Details

Primer Sequences

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Primer Chromosome Location

Chr.4: 122743675-122743908 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

BBS12

Entrez Gene ID

166379

Gene Name

Bardet-Biedl syndrome 12

Gene Aliases

C4orf24

UniGene

Hs.400698

Gene Chromosome Location

Chr.4: 122700437-122744943 on Build GRCh38

Transcripts

NM_001178007.1 NM_152618.2 XM_011531680.2 XM_017007831.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
3974707	c.1810T>C	p.Y604H	Chr.4: 122743702-122743702 on Build GRCh38
4985275	c.1847G>A	p.S616N	Chr.4: 122743739-122743739 on Build GRCh38
3974708	c.1851A>G	p.T617T	Chr.4: 122743743-122743743 on Build GRCh38
6207677	c.1923T>C	p.S641S	Chr.4: 122743815-122743815 on Build GRCh38
243177	c.1998T>C	p.V666V	Chr.4: 122743890-122743890 on Build GRCh38
4474029	c.1890C>T	p.G630G	Chr.4: 122743782-122743782 on Build GRCh38
7094817	c.1937G>T	p.R646I	Chr.4: 122743829-122743829 on Build GRCh38
5356024	c.1834G>C	p.E612Q	Chr.4: 122743726-122743726 on Build GRCh38
5659246	c.1862A>G	p.H621R	Chr.4: 122743754-122743754 on Build GRCh38
5675766	c.2016G>T	p.A672A	Chr.4: 122743908-122743908 on Build GRCh38
6240105	c.1967T>A	p.L656Q	Chr.4: 122743859-122743859 on Build GRCh38
5659245	c.1833A>C	p.S611S	Chr.4: 122743725-122743725 on Build GRCh38
7248617	c.1872A>G	p.Q624Q	Chr.4: 122743764-122743764 on Build GRCh38
3008939	c.1885T>C	p.S629P	Chr.4: 122743777-122743777 on Build GRCh38
4665255	c.1921A>G	p.S641G	Chr.4: 122743813-122743813 on Build GRCh38
1426725	c.1801A>C	p.T601P	Chr.4: 122743693-122743693 on Build GRCh38
1050734	c.1802C>A	p.T601N	Chr.4: 122743694-122743694 on Build GRCh38
732740	c.1954A>T	p.I652F	Chr.4: 122743846-122743846 on Build GRCh38
6610123	c.2015C>T	p.A672V	Chr.4: 122743907-122743907 on Build GRCh38
3825117	c.1834G>T	p.E612*	Chr.4: 122743726-122743726 on Build GRCh38
4434677	c.1877C>T	p.A626V	Chr.4: 122743769-122743769 on Build GRCh38
3373393	c.1886C>G	p.S629C	Chr.4: 122743778-122743778 on Build GRCh38
480811	c.1930A>C	p.N644H	Chr.4: 122743822-122743822 on Build GRCh38
732739	c.1980G>T	p.P660P	Chr.4: 122743872-122743872 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs753804384	Chr.4: 122743716-122743721 on Build GRCh38
rs748009027	Chr.4: 122743799-122743799 on Build GRCh38
rs765915863	Chr.4: 122743781-122743781 on Build GRCh38
rs112390950	Chr.4: 122743760-122743760 on Build GRCh38
rs778766135	Chr.4: 122743789-122743790 on Build GRCh38
rs369696220	Chr.4: 122743885-122743885 on Build GRCh38
rs773424236	Chr.4: 122743737-122743737 on Build GRCh38
rs141393809	Chr.4: 122743701-122743701 on Build GRCh38
rs939334398	Chr.4: 122743766-122743766 on Build GRCh38
rs28507107	Chr.4: 122743739-122743739 on Build GRCh38
rs781136885	Chr.4: 122743795-122743795 on Build GRCh38
rs184225705	Chr.4: 122743715-122743715 on Build GRCh38
rs528535207	Chr.4: 122743722-122743722 on Build GRCh38
rs778953866	Chr.4: 122743872-122743872 on Build GRCh38
rs772235638	Chr.4: 122743709-122743709 on Build GRCh38
rs139278612	Chr.4: 122743751-122743751 on Build GRCh38
rs147281546	Chr.4: 122743871-122743871 on Build GRCh38
rs771057055	Chr.4: 122743741-122743741 on Build GRCh38
rs779685329	Chr.4: 122743885-122743887 on Build GRCh38
rs756035223	Chr.4: 122743812-122743812 on Build GRCh38
rs758008862	Chr.4: 122743824-122743826 on Build GRCh38
rs892531107	Chr.4: 122743791-122743791 on Build GRCh38
rs759516566	Chr.4: 122743745-122743745 on Build GRCh38
rs777615072	Chr.4: 122743823-122743823 on Build GRCh38
rs757183229	Chr.4: 122743746-122743746 on Build GRCh38
rs745706516	Chr.4: 122743802-122743817 on Build GRCh38
rs758135703	Chr.4: 122743775-122743775 on Build GRCh38
rs938588568	Chr.4: 122743836-122743836 on Build GRCh38
rs751126507	Chr.4: 122743793-122743793 on Build GRCh38
rs931117746	Chr.4: 122743805-122743805 on Build GRCh38
rs764074545	Chr.4: 122743705-122743706 on Build GRCh38
rs749009228	Chr.4: 122743853-122743853 on Build GRCh38
rs779671886	Chr.4: 122743707-122743707 on Build GRCh38
rs376558822	Chr.4: 122743742-122743742 on Build GRCh38
rs764497344	Chr.4: 122743756-122743756 on Build GRCh38
rs17857451	Chr.4: 122743736-122743736 on Build GRCh38
rs13102440	Chr.4: 122743764-122743764 on Build GRCh38
rs776100718	Chr.4: 122743750-122743750 on Build GRCh38
rs905750251	Chr.4: 122743827-122743827 on Build GRCh38
rs369934327	Chr.4: 122743743-122743743 on Build GRCh38
rs768092773	Chr.4: 122743746-122743746 on Build GRCh38

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