Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45986541-45986768 on Build GRCh38
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
COL6A1
Entrez Gene ID
1291
Gene Name
collagen type VI alpha 1
Gene Aliases
BTHLM1, OPLL, UCHMD1
UniGene
Hs.474053
Gene Chromosome Location
Chr.21: 45981749-46005049 on Build GRCh38
Transcripts
NM_001848.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
7318676 c.573C>A p.I191I Chr.21: 45986670-45986670 on Build GRCh38
5668832 c.537C>A p.A179A Chr.21: 45986634-45986634 on Build GRCh38
6196018 c.543C>G p.H181Q Chr.21: 45986640-45986640 on Build GRCh38
3912299 c.481C>T p.P161S Chr.21: 45986578-45986578 on Build GRCh38
6443895 c.472G>A p.D158N Chr.21: 45986569-45986569 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs767229013 Chr.21: 45986707-45986707 on Build GRCh38
rs749929221 Chr.21: 45986629-45986629 on Build GRCh38
rs772877614 Chr.21: 45986712-45986712 on Build GRCh38
rs111710378 Chr.21: 45986696-45986697 on Build GRCh38
rs886042409 Chr.21: 45986653-45986653 on Build GRCh38
rs373970248 Chr.21: 45986607-45986607 on Build GRCh38
rs398123636 Chr.21: 45986646-45986646 on Build GRCh38
rs568760186 Chr.21: 45986748-45986748 on Build GRCh38
rs767370298 Chr.21: 45986582-45986582 on Build GRCh38
rs371721318 Chr.21: 45986733-45986733 on Build GRCh38
rs754507 Chr.21: 45986698-45986698 on Build GRCh38
rs536288320 Chr.21: 45986734-45986734 on Build GRCh38
rs1001716499 Chr.21: 45986749-45986749 on Build GRCh38
rs776935888 Chr.21: 45986694-45986694 on Build GRCh38
rs890926408 Chr.21: 45986695-45986695 on Build GRCh38
rs747557222 Chr.21: 45986574-45986574 on Build GRCh38
rs773280332 Chr.21: 45986571-45986571 on Build GRCh38
rs770664917 Chr.21: 45986747-45986747 on Build GRCh38
rs764985107 Chr.21: 45986736-45986736 on Build GRCh38
rs766126332 Chr.21: 45986697-45986697 on Build GRCh38
rs398123638 Chr.21: 45986693-45986693 on Build GRCh38
rs117470181 Chr.21: 45986722-45986722 on Build GRCh38
rs974511722 Chr.21: 45986727-45986727 on Build GRCh38
rs754667407 Chr.21: 45986651-45986651 on Build GRCh38
rs761552446 Chr.21: 45986622-45986622 on Build GRCh38
rs756141940 Chr.21: 45986636-45986636 on Build GRCh38
rs921797028 Chr.21: 45986600-45986600 on Build GRCh38
rs370889024 Chr.21: 45986605-45986605 on Build GRCh38
rs761605481 Chr.21: 45986705-45986705 on Build GRCh38
rs376650683 Chr.21: 45986568-45986568 on Build GRCh38
rs559158458 Chr.21: 45986661-45986661 on Build GRCh38
rs200132623 Chr.21: 45986598-45986598 on Build GRCh38
rs775893001 Chr.21: 45986704-45986704 on Build GRCh38
rs766184155 Chr.21: 45986645-45986645 on Build GRCh38
rs146071423 Chr.21: 45986616-45986616 on Build GRCh38
rs980266782 Chr.21: 45986594-45986594 on Build GRCh38
rs531559651 Chr.21: 45986715-45986715 on Build GRCh38
rs777077720 Chr.21: 45986580-45986580 on Build GRCh38
rs987297259 Chr.21: 45986743-45986744 on Build GRCh38
rs746258711 Chr.21: 45986697-45986697 on Build GRCh38
rs913125478 Chr.21: 45986746-45986746 on Build GRCh38
rs111850281 Chr.21: 45986687-45986687 on Build GRCh38
rs983091594 Chr.21: 45986699-45986699 on Build GRCh38
rs767176038 Chr.21: 45986628-45986628 on Build GRCh38
rs61751027 Chr.21: 45986676-45986676 on Build GRCh38
rs771408273 Chr.21: 45986578-45986578 on Build GRCh38
rs747043727 Chr.21: 45986685-45986685 on Build GRCh38
rs398123637 Chr.21: 45986697-45986698 on Build GRCh38
rs540819892 Chr.21: 45986647-45986647 on Build GRCh38
rs777883035 Chr.21: 45986677-45986677 on Build GRCh38

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