Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45989407-45989642 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
3551637 c.863G>A p.R288K Chr.21: 45989612-45989612 on Build GRCh38
5626815 c.863G>C p.R288T Chr.21: 45989612-45989612 on Build GRCh38
5785962 c.868G>A p.G290R Chr.21: 45989617-45989617 on Build GRCh38
3551638 c.867C>G p.P289P Chr.21: 45989616-45989616 on Build GRCh38
6872997 c.883G>A p.V295I Chr.21: 45989632-45989632 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs758591487 Chr.21: 45989611-45989611 on Build GRCh38
rs984436891 Chr.21: 45989431-45989431 on Build GRCh38
rs201911843 Chr.21: 45989575-45989575 on Build GRCh38
rs760548853 Chr.21: 45989581-45989581 on Build GRCh38
rs185879569 Chr.21: 45989482-45989482 on Build GRCh38
rs781433523 Chr.21: 45989570-45989570 on Build GRCh38
rs1026706900 Chr.21: 45989495-45989495 on Build GRCh38
rs771748785 Chr.21: 45989579-45989579 on Build GRCh38
rs747514790 Chr.21: 45989564-45989564 on Build GRCh38
rs398123641 Chr.21: 45989590-45989590 on Build GRCh38
rs554793185 Chr.21: 45989455-45989455 on Build GRCh38
rs386819390 Chr.21: 45989588-45989590 on Build GRCh38
rs765006794 Chr.21: 45989600-45989600 on Build GRCh38
rs121912939 Chr.21: 45989617-45989617 on Build GRCh38
rs764606641 Chr.21: 45989592-45989593 on Build GRCh38
rs2277814 Chr.21: 45989589-45989589 on Build GRCh38
rs777907739 Chr.21: 45989558-45989558 on Build GRCh38
rs943237687 Chr.21: 45989461-45989461 on Build GRCh38
rs560393828 Chr.21: 45989601-45989601 on Build GRCh38
rs933430235 Chr.21: 45989503-45989503 on Build GRCh38
rs398123642 Chr.21: 45989586-45989586 on Build GRCh38
rs761552447 Chr.21: 45989578-45989578 on Build GRCh38
rs766293322 Chr.21: 45989587-45989590 on Build GRCh38
rs544298939 Chr.21: 45989529-45989529 on Build GRCh38
rs534393842 Chr.21: 45989483-45989483 on Build GRCh38
rs961052743 Chr.21: 45989468-45989468 on Build GRCh38
rs759271765 Chr.21: 45989593-45989593 on Build GRCh38
rs751609584 Chr.21: 45989616-45989616 on Build GRCh38
rs909155660 Chr.21: 45989435-45989435 on Build GRCh38
rs372027081 Chr.21: 45989620-45989620 on Build GRCh38
rs777764932 Chr.21: 45989614-45989614 on Build GRCh38
rs746205718 Chr.21: 45989572-45989572 on Build GRCh38
rs376342983 Chr.21: 45989574-45989574 on Build GRCh38
rs924049292 Chr.21: 45989519-45989519 on Build GRCh38
rs576852003 Chr.21: 45989504-45989504 on Build GRCh38
rs558921753 Chr.21: 45989488-45989488 on Build GRCh38
rs759266783 Chr.21: 45989590-45989591 on Build GRCh38
rs772751840 Chr.21: 45989580-45989580 on Build GRCh38
rs1015630193 Chr.21: 45989467-45989467 on Build GRCh38
rs78884675 Chr.21: 45989588-45989588 on Build GRCh38
rs753368603 Chr.21: 45989588-45989589 on Build GRCh38
rs771447857 Chr.21: 45989566-45989566 on Build GRCh38

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