Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50185528-50185701 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
COL1A1
Entrez Gene ID
1277
Gene Name
collagen type I alpha 1
Gene Aliases
EDSC, OI1, OI2, OI3, OI4
UniGene
Hs.172928
Gene Chromosome Location
Chr.17: 50184096-50201648 on Build GRCh38
Transcripts
NM_000088.3 XM_005257058.3 XM_005257059.4 XM_011524341.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5957388 c.4321G>A p.D1441N Chr.17: 50185576-50185576 on Build GRCh38
5972268 c.4295C>G p.T1432S Chr.17: 50185602-50185602 on Build GRCh38
1710464 c.4291A>G p.T1431A Chr.17: 50185606-50185606 on Build GRCh38
260212 c.4362C>T p.F1454F Chr.17: 50185535-50185535 on Build GRCh38
3519014 c.4332C>T p.P1444P Chr.17: 50185565-50185565 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs778266654 Chr.17: 50185580-50185580 on Build GRCh38
rs1046359912 Chr.17: 50185661-50185661 on Build GRCh38
rs149295671 Chr.17: 50185590-50185590 on Build GRCh38
rs72656350 Chr.17: 50185587-50185587 on Build GRCh38
rs765265656 Chr.17: 50185603-50185603 on Build GRCh38
rs113187869 Chr.17: 50185650-50185650 on Build GRCh38
rs760417442 Chr.17: 50185589-50185589 on Build GRCh38
rs771512754 Chr.17: 50185583-50185583 on Build GRCh38
rs10407 Chr.17: 50185622-50185622 on Build GRCh38
rs375529943 Chr.17: 50185676-50185676 on Build GRCh38
rs766386485 Chr.17: 50185635-50185635 on Build GRCh38
rs768460126 Chr.17: 50185680-50185680 on Build GRCh38
rs966661903 Chr.17: 50185651-50185651 on Build GRCh38
rs778301848 Chr.17: 50185669-50185669 on Build GRCh38
rs369077144 Chr.17: 50185670-50185670 on Build GRCh38
rs1800220 Chr.17: 50185597-50185597 on Build GRCh38
rs1013292596 Chr.17: 50185634-50185634 on Build GRCh38
rs2249492 Chr.17: 50185660-50185660 on Build GRCh38
rs17857117 Chr.17: 50185584-50185584 on Build GRCh38
rs1059475 Chr.17: 50185601-50185601 on Build GRCh38
rs775140599 Chr.17: 50185588-50185588 on Build GRCh38
rs372204030 Chr.17: 50185675-50185675 on Build GRCh38
rs760246047 Chr.17: 50185559-50185559 on Build GRCh38
rs972891143 Chr.17: 50185557-50185557 on Build GRCh38
rs771552286 Chr.17: 50185673-50185673 on Build GRCh38
rs367952133 Chr.17: 50185558-50185558 on Build GRCh38
rs41316725 Chr.17: 50185616-50185616 on Build GRCh38
rs891380309 Chr.17: 50185550-50185550 on Build GRCh38
rs957884821 Chr.17: 50185668-50185668 on Build GRCh38
rs1059454 Chr.17: 50185606-50185606 on Build GRCh38
rs745331536 Chr.17: 50185582-50185582 on Build GRCh38
rs201450194 Chr.17: 50185655-50185655 on Build GRCh38
rs144134990 Chr.17: 50185640-50185640 on Build GRCh38
rs756459768 Chr.17: 50185662-50185662 on Build GRCh38
rs72656351 Chr.17: 50185576-50185576 on Build GRCh38
rs139388334 Chr.17: 50185639-50185639 on Build GRCh38
rs757911214 Chr.17: 50185578-50185578 on Build GRCh38
rs776631611 Chr.17: 50185591-50185591 on Build GRCh38
rs748650672 Chr.17: 50185574-50185574 on Build GRCh38
rs763025405 Chr.17: 50185621-50185621 on Build GRCh38
rs770326881 Chr.17: 50185577-50185577 on Build GRCh38

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