Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 237336188-237336413 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
4673981	c.8866G>A	p.A2956T	Chr.2: 237336234-237336234 on Build GRCh38
4914396	c.8694T>C	p.T2898T	Chr.2: 237336406-237336406 on Build GRCh38
3695364	c.8772C>A	p.A2924A	Chr.2: 237336328-237336328 on Build GRCh38
6157513	c.8808G>T	p.V2936V	Chr.2: 237336292-237336292 on Build GRCh38
4561376	c.8824G>A	p.A2942T	Chr.2: 237336276-237336276 on Build GRCh38
6544083	c.8891C>A	p.A2964E	Chr.2: 237336209-237336209 on Build GRCh38
5713073	c.8877_8879delTGC	p.A2960delA	Chr.2: 237336221-237336223 on Build GRCh38
4411265	c.8797C>G	p.P2933A	Chr.2: 237336303-237336303 on Build GRCh38
6090914	c.8830C>T	p.P2944S	Chr.2: 237336270-237336270 on Build GRCh38
3051240	c.8904G>T	p.E2968D	Chr.2: 237336196-237336196 on Build GRCh38
3051241	c.8887G>A	p.V2963M	Chr.2: 237336213-237336213 on Build GRCh38
3426246	c.8836G>T	p.A2946S	Chr.2: 237336264-237336264 on Build GRCh38
6633660	c.8739C>A	p.A2913A	Chr.2: 237336361-237336361 on Build GRCh38
4421510	c.8805G>A	p.A2935A	Chr.2: 237336295-237336295 on Build GRCh38
6090913	c.8707C>A	p.P2903T	Chr.2: 237336393-237336393 on Build GRCh38
3426247	c.8825C>T	p.A2942V	Chr.2: 237336275-237336275 on Build GRCh38
3051245	c.8865C>T	p.P2955P	Chr.2: 237336235-237336235 on Build GRCh38
1683904	c.8866_8868delGCT	p.A2960delA	Chr.2: 237336232-237336234 on Build GRCh38
7225476	c.8820G>A	p.T2940T	Chr.2: 237336280-237336280 on Build GRCh38
260239	c.8826G>A	p.A2942A	Chr.2: 237336274-237336274 on Build GRCh38
1692224	c.8765C>T	p.P2922L	Chr.2: 237336335-237336335 on Build GRCh38
6504032	c.8858G>A	p.R2953K	Chr.2: 237336242-237336242 on Build GRCh38
4997870	c.8780T>C	p.M2927T	Chr.2: 237336320-237336320 on Build GRCh38
274621	c.8745G>A	p.A2915A	Chr.2: 237336355-237336355 on Build GRCh38
1201977	c.8746A>G	p.K2916E	Chr.2: 237336354-237336354 on Build GRCh38
3391590	c.8744C>T	p.A2915V	Chr.2: 237336356-237336356 on Build GRCh38
6633600	c.8724C>T	p.A2908A	Chr.2: 237336376-237336376 on Build GRCh38
7097345	c.8770G>A	p.A2924T	Chr.2: 237336330-237336330 on Build GRCh38
3682575	c.8735C>T	p.P2912L	Chr.2: 237336365-237336365 on Build GRCh38
3391591	c.8725G>A	p.A2909T	Chr.2: 237336375-237336375 on Build GRCh38
7362280	c.8822C>T	p.A2941V	Chr.2: 237336278-237336278 on Build GRCh38
5344122	c.8733G>T	p.K2911N	Chr.2: 237336367-237336367 on Build GRCh38
4632307	c.8876C>T	p.A2959V	Chr.2: 237336224-237336224 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs758256025	Chr.2: 237336261-237336261 on Build GRCh38
rs992204564	Chr.2: 237336306-237336306 on Build GRCh38
rs778146525	Chr.2: 237336371-237336371 on Build GRCh38
rs916143029	Chr.2: 237336240-237336240 on Build GRCh38
rs536607503	Chr.2: 237336246-237336246 on Build GRCh38
rs200111289	Chr.2: 237336295-237336295 on Build GRCh38
rs114684687	Chr.2: 237336376-237336376 on Build GRCh38
rs766551222	Chr.2: 237336239-237336239 on Build GRCh38
rs11683438	Chr.2: 237336280-237336280 on Build GRCh38
rs112382351	Chr.2: 237336355-237336355 on Build GRCh38
rs774645319	Chr.2: 237336225-237336225 on Build GRCh38
rs201917052	Chr.2: 237336375-237336375 on Build GRCh38
rs763881553	Chr.2: 237336351-237336351 on Build GRCh38
rs765579349	Chr.2: 237336253-237336253 on Build GRCh38
rs373550111	Chr.2: 237336302-237336302 on Build GRCh38
rs376021820	Chr.2: 237336254-237336254 on Build GRCh38
rs200626456	Chr.2: 237336281-237336281 on Build GRCh38
rs765526209	Chr.2: 237336319-237336319 on Build GRCh38
rs11903206	Chr.2: 237336278-237336278 on Build GRCh38
rs772424314	Chr.2: 237336232-237336232 on Build GRCh38
rs779390247	Chr.2: 237336329-237336343 on Build GRCh38
rs757146083	Chr.2: 237336275-237336275 on Build GRCh38
rs146454821	Chr.2: 237336290-237336290 on Build GRCh38
rs773820329	Chr.2: 237336234-237336234 on Build GRCh38
rs755667041	Chr.2: 237336359-237336359 on Build GRCh38
rs112928650	Chr.2: 237336365-237336365 on Build GRCh38
rs763923503	Chr.2: 237336264-237336264 on Build GRCh38
rs6728818	Chr.2: 237336320-237336320 on Build GRCh38
rs754064807	Chr.2: 237336220-237336221 on Build GRCh38
rs563813743	Chr.2: 237336209-237336209 on Build GRCh38
rs769449543	Chr.2: 237336221-237336221 on Build GRCh38
rs199936838	Chr.2: 237336235-237336235 on Build GRCh38
rs779670941	Chr.2: 237336364-237336364 on Build GRCh38
rs762649220	Chr.2: 237336340-237336340 on Build GRCh38
rs377528704	Chr.2: 237336357-237336357 on Build GRCh38
rs147324162	Chr.2: 237336208-237336208 on Build GRCh38
rs373948506	Chr.2: 237336249-237336249 on Build GRCh38
rs757584445	Chr.2: 237336233-237336235 on Build GRCh38
rs751580746	Chr.2: 237336274-237336274 on Build GRCh38
rs193262655	Chr.2: 237336292-237336292 on Build GRCh38
rs957706380	Chr.2: 237336380-237336380 on Build GRCh38
rs139811166	Chr.2: 237336301-237336301 on Build GRCh38
rs36020669	Chr.2: 237336296-237336296 on Build GRCh38
rs751323599	Chr.2: 237336352-237336352 on Build GRCh38
rs35879189	Chr.2: 237336221-237336223 on Build GRCh38
rs751532649	Chr.2: 237336356-237336356 on Build GRCh38

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