Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 219420388-219420916 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

DES

Entrez Gene ID

1674

Gene Name

desmin

Gene Aliases

CSM1, CSM2, LGMD2R

UniGene

Hs.594952

Gene Chromosome Location

Chr.2: 219418377-219426739 on Build GRCh38

Transcripts

NM_001927.3

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
7364169	c.885G>A	p.W295*	Chr.2: 219420644-219420644 on Build GRCh38
5547428	c.928_930delAAC	p.N311delN	Chr.2: 219420858-219420860 on Build GRCh38
5584992	c.738G>A	p.E246E	Chr.2: 219420497-219420497 on Build GRCh38
5686074	c.915G>A	p.Q305Q	Chr.2: 219420845-219420845 on Build GRCh38
6510625	c.777C>A	p.V259V	Chr.2: 219420536-219420536 on Build GRCh38
4509575	c.810C>T	p.L270L	Chr.2: 219420569-219420569 on Build GRCh38
3577979	c.894G>A	p.S298S	Chr.2: 219420653-219420653 on Build GRCh38
3577978	c.875C>T	p.A292V	Chr.2: 219420634-219420634 on Build GRCh38
1203411	c.944G>A	p.R315H	Chr.2: 219420874-219420874 on Build GRCh38
5762384	c.831C>A	p.I277I	Chr.2: 219420590-219420590 on Build GRCh38
3577980	c.967G>A	p.E323K	Chr.2: 219420897-219420897 on Build GRCh38
5812400	c.852C>A	p.I284I	Chr.2: 219420611-219420611 on Build GRCh38
1565067	c.943C>T	p.R315C	Chr.2: 219420873-219420873 on Build GRCh38
4609563	c.974G>A	p.R325Q	Chr.2: 219420904-219420904 on Build GRCh38
1692040	c.958G>A	p.E320K	Chr.2: 219420888-219420888 on Build GRCh38
3709426	c.757C>T	p.Q253*	Chr.2: 219420516-219420516 on Build GRCh38
7087579	c.893C>T	p.S298L	Chr.2: 219420652-219420652 on Build GRCh38
232154	c.871G>A	p.E291K	Chr.2: 219420630-219420630 on Build GRCh38
4677119	c.854C>T	p.A285V	Chr.2: 219420613-219420613 on Build GRCh38
1743159	c.942G>A	p.L314L	Chr.2: 219420872-219420872 on Build GRCh38
7130447	c.909G>A	p.L303L	Chr.2: 219420839-219420839 on Build GRCh38
3709427	c.786G>A	p.E262E	Chr.2: 219420545-219420545 on Build GRCh38
7126742	c.828C>T	p.D276D	Chr.2: 219420587-219420587 on Build GRCh38
377911	c.821T>A	p.L274H	Chr.2: 219420580-219420580 on Build GRCh38
6156990	c.780G>A	p.Q260Q	Chr.2: 219420539-219420539 on Build GRCh38
4879138	c.894G>T	p.S298S	Chr.2: 219420653-219420653 on Build GRCh38
4932883	c.978C>A	p.H326Q	Chr.2: 219420908-219420908 on Build GRCh38
719878	c.819C>A	p.A273A	Chr.2: 219420578-219420578 on Build GRCh38
1016734	c.853G>A	p.A285T	Chr.2: 219420612-219420612 on Build GRCh38
719879	c.783G>A	p.V261V	Chr.2: 219420542-219420542 on Build GRCh38
1016735	c.937G>A	p.A313T	Chr.2: 219420867-219420867 on Build GRCh38
7364166	c.833G>A	p.R278Q	Chr.2: 219420592-219420592 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs945223899	Chr.2: 219420674-219420674 on Build GRCh38
rs371053066	Chr.2: 219420823-219420823 on Build GRCh38
rs372532465	Chr.2: 219420596-219420596 on Build GRCh38
rs578191306	Chr.2: 219420854-219420854 on Build GRCh38
rs397516699	Chr.2: 219420660-219420661 on Build GRCh38
rs34337334	Chr.2: 219420864-219420864 on Build GRCh38
rs776181610	Chr.2: 219420436-219420436 on Build GRCh38
rs751348358	Chr.2: 219420888-219420888 on Build GRCh38
rs748742357	Chr.2: 219420873-219420873 on Build GRCh38
rs150370918	Chr.2: 219420551-219420551 on Build GRCh38
rs369144706	Chr.2: 219420584-219420584 on Build GRCh38
rs773937521	Chr.2: 219420693-219420693 on Build GRCh38
rs752188244	Chr.2: 219420446-219420446 on Build GRCh38
rs761475402	Chr.2: 219420592-219420592 on Build GRCh38
rs756017313	Chr.2: 219420481-219420481 on Build GRCh38
rs763599850	Chr.2: 219420581-219420581 on Build GRCh38
rs2669118	Chr.2: 219420767-219420767 on Build GRCh38
rs2666108	Chr.2: 219420766-219420766 on Build GRCh38
rs756434148	Chr.2: 219420863-219420863 on Build GRCh38
rs770258461	Chr.2: 219420576-219420576 on Build GRCh38
rs794728986	Chr.2: 219420642-219420642 on Build GRCh38
rs893676371	Chr.2: 219420423-219420423 on Build GRCh38
rs776035165	Chr.2: 219420676-219420676 on Build GRCh38
rs998215582	Chr.2: 219420470-219420470 on Build GRCh38
rs769213907	Chr.2: 219420866-219420866 on Build GRCh38
rs776995850	Chr.2: 219420571-219420571 on Build GRCh38
rs989384566	Chr.2: 219420740-219420740 on Build GRCh38
rs754852794	Chr.2: 219420839-219420839 on Build GRCh38
rs776125412	Chr.2: 219420578-219420578 on Build GRCh38
rs146755676	Chr.2: 219420644-219420644 on Build GRCh38
rs137945254	Chr.2: 219420673-219420673 on Build GRCh38
rs769305726	Chr.2: 219420689-219420689 on Build GRCh38
rs148947510	Chr.2: 219420865-219420865 on Build GRCh38
rs754941710	Chr.2: 219420650-219420650 on Build GRCh38
rs771116995	Chr.2: 219420668-219420668 on Build GRCh38
rs876657771	Chr.2: 219420612-219420612 on Build GRCh38
rs766252091	Chr.2: 219420867-219420867 on Build GRCh38
rs779875721	Chr.2: 219420622-219420622 on Build GRCh38
rs945046007	Chr.2: 219420786-219420786 on Build GRCh38
rs778826152	Chr.2: 219420842-219420842 on Build GRCh38
rs375906682	Chr.2: 219420502-219420502 on Build GRCh38
rs762634257	Chr.2: 219420661-219420662 on Build GRCh38
rs2632582	Chr.2: 219420682-219420682 on Build GRCh38
rs750160975	Chr.2: 219420598-219420598 on Build GRCh38
rs753745620	Chr.2: 219420634-219420634 on Build GRCh38
rs745667526	Chr.2: 219420476-219420476 on Build GRCh38
rs370385097	Chr.2: 219420672-219420672 on Build GRCh38
rs761229058	Chr.2: 219420701-219420701 on Build GRCh38
rs140375681	Chr.2: 219420487-219420487 on Build GRCh38
rs763753066	Chr.2: 219420454-219420454 on Build GRCh38
rs200300865	Chr.2: 219420688-219420688 on Build GRCh38
rs113252016	Chr.2: 219420492-219420492 on Build GRCh38
rs753655637	Chr.2: 219420834-219420834 on Build GRCh38
rs752747277	Chr.2: 219420846-219420846 on Build GRCh38
rs933928168	Chr.2: 219420760-219420760 on Build GRCh38
rs267607494	Chr.2: 219420580-219420580 on Build GRCh38
rs757975162	Chr.2: 219420451-219420451 on Build GRCh38
rs772117708	Chr.2: 219420501-219420501 on Build GRCh38
rs1053865406	Chr.2: 219420414-219420414 on Build GRCh38
rs747073500	Chr.2: 219420653-219420653 on Build GRCh38
rs759823001	Chr.2: 219420575-219420575 on Build GRCh38
rs1007681126	Chr.2: 219420519-219420519 on Build GRCh38
rs780995749	Chr.2: 219420469-219420469 on Build GRCh38
rs35419667	Chr.2: 219420499-219420500 on Build GRCh38
rs767115272	Chr.2: 219420781-219420781 on Build GRCh38
rs2666107	Chr.2: 219420449-219420449 on Build GRCh38
rs760197212	Chr.2: 219420892-219420892 on Build GRCh38
rs771455648	Chr.2: 219420874-219420874 on Build GRCh38
rs766123980	Chr.2: 219420791-219420791 on Build GRCh38
rs147327878	Chr.2: 219420544-219420544 on Build GRCh38
rs794728985	Chr.2: 219420591-219420591 on Build GRCh38
rs375709017	Chr.2: 219420853-219420853 on Build GRCh38
rs981782522	Chr.2: 219420628-219420628 on Build GRCh38
rs922526158	Chr.2: 219420732-219420732 on Build GRCh38
rs750024872	Chr.2: 219420782-219420782 on Build GRCh38
rs756897013	Chr.2: 219420465-219420465 on Build GRCh38
rs1058261	Chr.2: 219420587-219420587 on Build GRCh38
rs926406647	Chr.2: 219420685-219420685 on Build GRCh38
rs547425842	Chr.2: 219420440-219420440 on Build GRCh38
rs886044420	Chr.2: 219420527-219420527 on Build GRCh38
rs773192272	Chr.2: 219420761-219420761 on Build GRCh38
rs1042314538	Chr.2: 219420444-219420444 on Build GRCh38
rs139818514	Chr.2: 219420614-219420614 on Build GRCh38
rs994389035	Chr.2: 219420582-219420582 on Build GRCh38
rs201433470	Chr.2: 219420669-219420669 on Build GRCh38
rs62636491	Chr.2: 219420652-219420652 on Build GRCh38
rs889828698	Chr.2: 219420774-219420774 on Build GRCh38
rs144057476	Chr.2: 219420495-219420495 on Build GRCh38
rs41272701	Chr.2: 219420460-219420460 on Build GRCh38

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