Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 237340748-237341249 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

COL6A3

Entrez Gene ID

1293

Gene Name

collagen type VI alpha 3 chain

Gene Aliases

BTHLM1, DYT27, UCMD1

UniGene

Hs.233240

Gene Chromosome Location

Chr.2: 237324012-237434822 on Build GRCh38

Transcripts

NM_004369.3 NM_057166.4 NM_057167.3 XM_005246065.1 XM_005246066.1 XM_006712253.1 XM_011510574.1 XM_017003303.1 XM_017003304.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
477135	c.7881T>G	p.A2627A	Chr.2: 237341035-237341035 on Build GRCh38
122301	c.7943A>G	p.Q2648R	Chr.2: 237340973-237340973 on Build GRCh38
4558881	c.7848G>A	p.V2616V	Chr.2: 237341068-237341068 on Build GRCh38
720111	c.7780G>A	p.D2594N	Chr.2: 237341136-237341136 on Build GRCh38
3579584	c.8063C>T	p.S2688F	Chr.2: 237340853-237340853 on Build GRCh38
1669881	c.8045C>A	p.P2682H	Chr.2: 237340871-237340871 on Build GRCh38
4508595	c.7818C>T	p.F2606F	Chr.2: 237341098-237341098 on Build GRCh38
5009592	c.8097G>A	p.V2699V	Chr.2: 237340819-237340819 on Build GRCh38
1406564	c.7878C>T	p.S2626S	Chr.2: 237341038-237341038 on Build GRCh38
4092634	c.7779C>G	p.I2593M	Chr.2: 237341137-237341137 on Build GRCh38
6207318	c.8139G>A	p.R2713R	Chr.2: 237340777-237340777 on Build GRCh38
6090912	c.8009C>T	p.A2670V	Chr.2: 237340907-237340907 on Build GRCh38
5824588	c.7869C>T	p.I2623I	Chr.2: 237341047-237341047 on Build GRCh38
3579586	c.7894C>T	p.L2632L	Chr.2: 237341022-237341022 on Build GRCh38
1757047	c.7833G>A	p.A2611A	Chr.2: 237341083-237341083 on Build GRCh38
4092632	c.7949A>T	p.D2650V	Chr.2: 237340967-237340967 on Build GRCh38
6633661	c.7854C>T	p.I2618I	Chr.2: 237341062-237341062 on Build GRCh38
119784	c.7945C>G	p.L2649V	Chr.2: 237340971-237340971 on Build GRCh38
1018334	c.7984G>A	p.A2662T	Chr.2: 237340932-237340932 on Build GRCh38
310272	c.8152G>A	p.A2718T	Chr.2: 237340764-237340764 on Build GRCh38
7197793	c.7832C>G	p.A2611G	Chr.2: 237341084-237341084 on Build GRCh38
5603259	c.7766-1G>A	p.?	Chr.2: 237341151-237341151 on Build GRCh38
4853818	c.7988G>C	p.R2663T	Chr.2: 237340928-237340928 on Build GRCh38
4128230	c.7999G>T	p.V2667L	Chr.2: 237340917-237340917 on Build GRCh38
3051263	c.8108G>A	p.S2703N	Chr.2: 237340808-237340808 on Build GRCh38
3758061	c.7929G>A	p.A2643A	Chr.2: 237340987-237340987 on Build GRCh38
1201978	c.8114G>A	p.G2705E	Chr.2: 237340802-237340802 on Build GRCh38
171701	c.7855G>A	p.D2619N	Chr.2: 237341061-237341061 on Build GRCh38
5396550	c.7821G>A	p.R2607R	Chr.2: 237341095-237341095 on Build GRCh38
6633643	c.7849G>A	p.D2617N	Chr.2: 237341067-237341067 on Build GRCh38
3909934	c.7866C>T	p.F2622F	Chr.2: 237341050-237341050 on Build GRCh38
477136	c.7860G>A	p.M2620I	Chr.2: 237341056-237341056 on Build GRCh38
1631910	c.7937T>C	p.V2646A	Chr.2: 237340979-237340979 on Build GRCh38
720112	c.7832C>A	p.A2611E	Chr.2: 237341084-237341084 on Build GRCh38
4558860	c.7831G>A	p.A2611T	Chr.2: 237341085-237341085 on Build GRCh38
4508594	c.7814C>A	p.S2605Y	Chr.2: 237341102-237341102 on Build GRCh38
6090911	c.7860G>T	p.M2620I	Chr.2: 237341056-237341056 on Build GRCh38
3579585	c.8021C>T	p.S2674F	Chr.2: 237340895-237340895 on Build GRCh38
1757046	c.8032G>T	p.A2678S	Chr.2: 237340884-237340884 on Build GRCh38
4572543	c.7797T>G	p.F2599L	Chr.2: 237341119-237341119 on Build GRCh38
1406563	c.8008G>A	p.A2670T	Chr.2: 237340908-237340908 on Build GRCh38
3695366	c.7834G>A	p.A2612T	Chr.2: 237341082-237341082 on Build GRCh38
7159947	c.7917G>C	p.K2639N	Chr.2: 237340999-237340999 on Build GRCh38
1494872	c.7792G>A	p.G2598R	Chr.2: 237341124-237341124 on Build GRCh38
1669882	c.7871T>C	p.L2624S	Chr.2: 237341045-237341045 on Build GRCh38
4509117	c.7983C>T	p.F2661F	Chr.2: 237340933-237340933 on Build GRCh38
6446606	c.8131G>T	p.G2711*	Chr.2: 237340785-237340785 on Build GRCh38
3579587	c.7893C>T	p.T2631T	Chr.2: 237341023-237341023 on Build GRCh38
4092633	c.7843G>A	p.D2615N	Chr.2: 237341073-237341073 on Build GRCh38
6633624	c.7861G>A	p.A2621T	Chr.2: 237341055-237341055 on Build GRCh38
5025867	c.8010G>A	p.A2670A	Chr.2: 237340906-237340906 on Build GRCh38
3051267	c.7832C>T	p.A2611V	Chr.2: 237341084-237341084 on Build GRCh38
70265	c.8028C>G	p.D2676E	Chr.2: 237340888-237340888 on Build GRCh38
3758062	c.7842C>T	p.S2614S	Chr.2: 237341074-237341074 on Build GRCh38
6853378	c.8137A>G	p.R2713G	Chr.2: 237340779-237340779 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs781775472	Chr.2: 237340992-237340992 on Build GRCh38
rs775967180	Chr.2: 237341076-237341076 on Build GRCh38
rs145136426	Chr.2: 237341038-237341038 on Build GRCh38
rs747976144	Chr.2: 237341009-237341009 on Build GRCh38
rs34558385	Chr.2: 237341074-237341074 on Build GRCh38
rs765987305	Chr.2: 237340893-237340893 on Build GRCh38
rs886044041	Chr.2: 237340940-237340940 on Build GRCh38
rs973630902	Chr.2: 237341121-237341121 on Build GRCh38
rs760154245	Chr.2: 237340956-237340956 on Build GRCh38
rs766954929	Chr.2: 237340878-237340878 on Build GRCh38
rs1053569255	Chr.2: 237341104-237341104 on Build GRCh38
rs963639269	Chr.2: 237341116-237341116 on Build GRCh38
rs755777148	Chr.2: 237340772-237340772 on Build GRCh38
rs145884404	Chr.2: 237341073-237341073 on Build GRCh38
rs753981395	Chr.2: 237341066-237341066 on Build GRCh38
rs765014790	Chr.2: 237341039-237341039 on Build GRCh38
rs551116650	Chr.2: 237340912-237340912 on Build GRCh38
rs957705259	Chr.2: 237340802-237340802 on Build GRCh38
rs755750913	Chr.2: 237340886-237340886 on Build GRCh38
rs754664272	Chr.2: 237340986-237340986 on Build GRCh38
rs1037630319	Chr.2: 237340869-237340869 on Build GRCh38
rs767471920	Chr.2: 237340953-237340953 on Build GRCh38
rs759129620	Chr.2: 237341078-237341078 on Build GRCh38
rs142851023	Chr.2: 237340907-237340907 on Build GRCh38
rs749957183	Chr.2: 237340880-237340880 on Build GRCh38
rs886044342	Chr.2: 237340884-237340884 on Build GRCh38
rs890268146	Chr.2: 237340968-237340968 on Build GRCh38
rs771974295	Chr.2: 237341011-237341011 on Build GRCh38
rs35288868	Chr.2: 237341076-237341077 on Build GRCh38
rs1031349800	Chr.2: 237340789-237340789 on Build GRCh38
rs780804543	Chr.2: 237341200-237341200 on Build GRCh38
rs921987199	Chr.2: 237340879-237340879 on Build GRCh38
rs771203220	Chr.2: 237340806-237340806 on Build GRCh38
rs115757876	Chr.2: 237340819-237340819 on Build GRCh38
rs761740861	Chr.2: 237340871-237340871 on Build GRCh38
rs148017477	Chr.2: 237340899-237340899 on Build GRCh38
rs750826266	Chr.2: 237341058-237341058 on Build GRCh38
rs111595697	Chr.2: 237340988-237340988 on Build GRCh38
rs779104216	Chr.2: 237341144-237341144 on Build GRCh38
rs775630107	Chr.2: 237340926-237340926 on Build GRCh38
rs745793481	Chr.2: 237341164-237341164 on Build GRCh38
rs761045227	Chr.2: 237341131-237341131 on Build GRCh38
rs747926608	Chr.2: 237341072-237341072 on Build GRCh38
rs758750067	Chr.2: 237340901-237340901 on Build GRCh38
rs774092134	Chr.2: 237341006-237341006 on Build GRCh38
rs762702382	Chr.2: 237340828-237340828 on Build GRCh38
rs768129302	Chr.2: 237341056-237341056 on Build GRCh38
rs377679398	Chr.2: 237341013-237341013 on Build GRCh38
rs745354138	Chr.2: 237341225-237341225 on Build GRCh38
rs372278071	Chr.2: 237341148-237341148 on Build GRCh38
rs973495446	Chr.2: 237341005-237341005 on Build GRCh38
rs535306425	Chr.2: 237341083-237341083 on Build GRCh38
rs150554876	Chr.2: 237341108-237341108 on Build GRCh38
rs398124135	Chr.2: 237340908-237340908 on Build GRCh38
rs138285547	Chr.2: 237341067-237341067 on Build GRCh38
rs987550949	Chr.2: 237341177-237341177 on Build GRCh38
rs777305410	Chr.2: 237341046-237341046 on Build GRCh38
rs775318733	Chr.2: 237340825-237340825 on Build GRCh38
rs780182250	Chr.2: 237340996-237340996 on Build GRCh38
rs779154094	Chr.2: 237341070-237341070 on Build GRCh38
rs886042623	Chr.2: 237341119-237341120 on Build GRCh38
rs765740728	Chr.2: 237341034-237341034 on Build GRCh38
rs149403952	Chr.2: 237340894-237340894 on Build GRCh38
rs528369978	Chr.2: 237340909-237340909 on Build GRCh38
rs886044691	Chr.2: 237341008-237341008 on Build GRCh38
rs748491825	Chr.2: 237340776-237340776 on Build GRCh38
rs80193928	Chr.2: 237340921-237340921 on Build GRCh38
rs902231679	Chr.2: 237340915-237340915 on Build GRCh38
rs755107410	Chr.2: 237341139-237341139 on Build GRCh38
rs751945310	Chr.2: 237341041-237341041 on Build GRCh38
rs369537287	Chr.2: 237340963-237340963 on Build GRCh38
rs776220123	Chr.2: 237341037-237341037 on Build GRCh38
rs984056484	Chr.2: 237341097-237341097 on Build GRCh38
rs753501207	Chr.2: 237340965-237340965 on Build GRCh38
rs767932907	Chr.2: 237341117-237341117 on Build GRCh38
rs879503815	Chr.2: 237341223-237341223 on Build GRCh38
rs779948294	Chr.2: 237341062-237341062 on Build GRCh38
rs530561703	Chr.2: 237340952-237340952 on Build GRCh38
rs114806654	Chr.2: 237341084-237341084 on Build GRCh38
rs112104700	Chr.2: 237341043-237341043 on Build GRCh38
rs772602377	Chr.2: 237340779-237340779 on Build GRCh38
rs751561315	Chr.2: 237340842-237340842 on Build GRCh38
rs778195223	Chr.2: 237340794-237340794 on Build GRCh38
rs777383519	Chr.2: 237341169-237341169 on Build GRCh38
rs35763271	Chr.2: 237340771-237340771 on Build GRCh38
rs750819402	Chr.2: 237341122-237341122 on Build GRCh38
rs770746208	Chr.2: 237341189-237341189 on Build GRCh38
rs75349214	Chr.2: 237340919-237340919 on Build GRCh38
rs747073702	Chr.2: 237340804-237340804 on Build GRCh38
rs749408852	Chr.2: 237340999-237340999 on Build GRCh38
rs960490247	Chr.2: 237340885-237340885 on Build GRCh38
rs746855574	Chr.2: 237341173-237341173 on Build GRCh38
rs766947740	Chr.2: 237341136-237341136 on Build GRCh38
rs756654349	Chr.2: 237341061-237341061 on Build GRCh38
rs536700038	Chr.2: 237340851-237340851 on Build GRCh38
rs375222168	Chr.2: 237340933-237340933 on Build GRCh38
rs886055803	Chr.2: 237340866-237340866 on Build GRCh38
rs575544658	Chr.2: 237341197-237341197 on Build GRCh38
rs757801355	Chr.2: 237340989-237340989 on Build GRCh38
rs144249704	Chr.2: 237341137-237341137 on Build GRCh38
rs79313758	Chr.2: 237340906-237340906 on Build GRCh38
rs751453783	Chr.2: 237340818-237340818 on Build GRCh38
rs907941419	Chr.2: 237340815-237340815 on Build GRCh38
rs368811075	Chr.2: 237341191-237341191 on Build GRCh38
rs776858630	Chr.2: 237340818-237340818 on Build GRCh38
rs772676484	Chr.2: 237340954-237340954 on Build GRCh38
rs922019493	Chr.2: 237340911-237340911 on Build GRCh38
rs4433949	Chr.2: 237340987-237340987 on Build GRCh38
rs760230894	Chr.2: 237341031-237341031 on Build GRCh38
rs768944937	Chr.2: 237341002-237341002 on Build GRCh38
rs886042689	Chr.2: 237340843-237340843 on Build GRCh38
rs759414368	Chr.2: 237341182-237341183 on Build GRCh38
rs756212605	Chr.2: 237340993-237340993 on Build GRCh38
rs371571488	Chr.2: 237340841-237340841 on Build GRCh38
rs372793439	Chr.2: 237341194-237341194 on Build GRCh38
rs969160751	Chr.2: 237340834-237340834 on Build GRCh38
rs773192776	Chr.2: 237341018-237341018 on Build GRCh38
rs779286281	Chr.2: 237340775-237340775 on Build GRCh38
rs1024862202	Chr.2: 237340964-237340964 on Build GRCh38
rs749100905	Chr.2: 237340932-237340932 on Build GRCh38

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