Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 237341874-237342373 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
1406565	c.7765+2T>C	p.?	Chr.2: 237342063-237342063 on Build GRCh38
720110	c.7757T>C	p.V2586A	Chr.2: 237342073-237342073 on Build GRCh38
98216	c.7741G>A	p.V2581I	Chr.2: 237342089-237342089 on Build GRCh38
1406566	c.7717G>T	p.D2573Y	Chr.2: 237342113-237342113 on Build GRCh38
4788004	c.7765+2T>G	p.?	Chr.2: 237342063-237342063 on Build GRCh38
4508346	c.7720C>T	p.L2574F	Chr.2: 237342110-237342110 on Build GRCh38
5423412	c.7756G>C	p.V2586L	Chr.2: 237342074-237342074 on Build GRCh38
6157512	c.7764G>A	p.L2588L	Chr.2: 237342066-237342066 on Build GRCh38
5904714	c.7744C>T	p.L2582F	Chr.2: 237342086-237342086 on Build GRCh38
3051273	c.7695G>A	p.A2565A	Chr.2: 237342135-237342135 on Build GRCh38
6224928	c.7704G>A	p.L2568L	Chr.2: 237342126-237342126 on Build GRCh38
1201979	c.7669-1G>T	p.?	Chr.2: 237342162-237342162 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs145581705	Chr.2: 237342075-237342075 on Build GRCh38
rs765388693	Chr.2: 237342007-237342007 on Build GRCh38
rs764193290	Chr.2: 237342163-237342163 on Build GRCh38
rs376637667	Chr.2: 237342039-237342039 on Build GRCh38
rs773416790	Chr.2: 237342044-237342044 on Build GRCh38
rs930558902	Chr.2: 237342320-237342320 on Build GRCh38
rs112386121	Chr.2: 237341939-237341939 on Build GRCh38
rs543795014	Chr.2: 237341937-237341938 on Build GRCh38
rs779667683	Chr.2: 237342121-237342121 on Build GRCh38
rs574975784	Chr.2: 237342177-237342177 on Build GRCh38
rs1015920317	Chr.2: 237342284-237342284 on Build GRCh38
rs886043891	Chr.2: 237342102-237342102 on Build GRCh38
rs794727598	Chr.2: 237342124-237342124 on Build GRCh38
rs992035159	Chr.2: 237342269-237342269 on Build GRCh38
rs980856765	Chr.2: 237341957-237341957 on Build GRCh38
rs761150742	Chr.2: 237342048-237342048 on Build GRCh38
rs59232721	Chr.2: 237342196-237342196 on Build GRCh38
rs567192927	Chr.2: 237342182-237342182 on Build GRCh38
rs758506738	Chr.2: 237341980-237341982 on Build GRCh38
rs200456255	Chr.2: 237342135-237342135 on Build GRCh38
rs548961023	Chr.2: 237341943-237341943 on Build GRCh38
rs886043033	Chr.2: 237342076-237342076 on Build GRCh38
rs766781765	Chr.2: 237342049-237342049 on Build GRCh38
rs780964113	Chr.2: 237342143-237342143 on Build GRCh38
rs960587236	Chr.2: 237341972-237341972 on Build GRCh38
rs1041006651	Chr.2: 237342139-237342139 on Build GRCh38
rs992187883	Chr.2: 237342153-237342153 on Build GRCh38
rs756140209	Chr.2: 237342117-237342117 on Build GRCh38
rs745738184	Chr.2: 237342107-237342107 on Build GRCh38
rs143631346	Chr.2: 237342145-237342145 on Build GRCh38
rs765245863	Chr.2: 237342073-237342073 on Build GRCh38
rs889053037	Chr.2: 237342344-237342344 on Build GRCh38
rs140021275	Chr.2: 237342082-237342082 on Build GRCh38
rs528635041	Chr.2: 237341922-237341922 on Build GRCh38
rs886055804	Chr.2: 237342139-237342139 on Build GRCh38
rs780850057	Chr.2: 237342086-237342086 on Build GRCh38
rs144765607	Chr.2: 237342000-237342000 on Build GRCh38
rs971999657	Chr.2: 237342172-237342172 on Build GRCh38
rs140635358	Chr.2: 237341940-237341940 on Build GRCh38
rs776994369	Chr.2: 237342144-237342144 on Build GRCh38
rs146872525	Chr.2: 237342160-237342160 on Build GRCh38
rs758582935	Chr.2: 237342081-237342081 on Build GRCh38
rs34137614	Chr.2: 237342268-237342269 on Build GRCh38
rs777263519	Chr.2: 237342050-237342050 on Build GRCh38
rs755632634	Chr.2: 237342258-237342258 on Build GRCh38
rs1009122752	Chr.2: 237342344-237342345 on Build GRCh38
rs1022266665	Chr.2: 237342157-237342157 on Build GRCh38
rs751294512	Chr.2: 237342084-237342084 on Build GRCh38
rs919559147	Chr.2: 237342311-237342311 on Build GRCh38
rs995197003	Chr.2: 237341946-237341946 on Build GRCh38
rs750270909	Chr.2: 237342206-237342206 on Build GRCh38
rs1050802138	Chr.2: 237342330-237342330 on Build GRCh38
rs557375944	Chr.2: 237341998-237341998 on Build GRCh38
rs1033018695	Chr.2: 237342141-237342141 on Build GRCh38
rs879912909	Chr.2: 237342266-237342266 on Build GRCh38
rs34668305	Chr.2: 237341959-237341959 on Build GRCh38
rs961356271	Chr.2: 237342306-237342306 on Build GRCh38
rs201479636	Chr.2: 237342128-237342128 on Build GRCh38
rs908480457	Chr.2: 237342006-237342006 on Build GRCh38
rs1009592477	Chr.2: 237341903-237341903 on Build GRCh38
rs973963137	Chr.2: 237342309-237342309 on Build GRCh38
rs760040712	Chr.2: 237342071-237342071 on Build GRCh38
rs201840494	Chr.2: 237342016-237342016 on Build GRCh38
rs956895139	Chr.2: 237341901-237341901 on Build GRCh38
rs1009561726	Chr.2: 237342154-237342154 on Build GRCh38
rs1009082593	Chr.2: 237342122-237342122 on Build GRCh38
rs377202620	Chr.2: 237342013-237342013 on Build GRCh38
rs747330663	Chr.2: 237342136-237342136 on Build GRCh38
rs763071900	Chr.2: 237342164-237342164 on Build GRCh38
rs188020704	Chr.2: 237342195-237342195 on Build GRCh38

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