Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50185419-50185589 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
6839459 c.4379C>A p.P1460H Chr.17: 50185518-50185518 on Build GRCh38
5981243 c.4387T>C p.F1463L Chr.17: 50185510-50185510 on Build GRCh38
3421681 c.4389C>T p.F1463F Chr.17: 50185508-50185508 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
rs750040559 Chr.17: 50185451-50185452 on Build GRCh38
rs761895918 Chr.17: 50185528-50185528 on Build GRCh38
rs895430341 Chr.17: 50185466-50185466 on Build GRCh38
rs758524007 Chr.17: 50185535-50185535 on Build GRCh38
rs759080989 Chr.17: 50185514-50185514 on Build GRCh38
rs10144 Chr.17: 50185445-50185445 on Build GRCh38
rs552043533 Chr.17: 50185446-50185446 on Build GRCh38
rs780248845 Chr.17: 50185478-50185478 on Build GRCh38
rs1046454623 Chr.17: 50185484-50185484 on Build GRCh38
rs770414874 Chr.17: 50185498-50185498 on Build GRCh38
rs199806909 Chr.17: 50185482-50185482 on Build GRCh38
rs767250343 Chr.17: 50185521-50185521 on Build GRCh38
rs138557594 Chr.17: 50185525-50185525 on Build GRCh38
rs577626107 Chr.17: 50185510-50185510 on Build GRCh38
rs72656352 Chr.17: 50185535-50185539 on Build GRCh38
rs201085309 Chr.17: 50185481-50185481 on Build GRCh38
rs1064882 Chr.17: 50185488-50185488 on Build GRCh38
rs772644181 Chr.17: 50185453-50185453 on Build GRCh38
rs571597998 Chr.17: 50185447-50185447 on Build GRCh38
rs760246047 Chr.17: 50185559-50185559 on Build GRCh38
rs972891143 Chr.17: 50185557-50185557 on Build GRCh38
rs780286127 Chr.17: 50185541-50185541 on Build GRCh38
rs72656353 Chr.17: 50185506-50185506 on Build GRCh38
rs758710876 Chr.17: 50185465-50185465 on Build GRCh38
rs17853657 Chr.17: 50185518-50185518 on Build GRCh38
rs748671504 Chr.17: 50185496-50185496 on Build GRCh38
rs367952133 Chr.17: 50185558-50185558 on Build GRCh38
rs775026377 Chr.17: 50185524-50185524 on Build GRCh38
rs891380309 Chr.17: 50185550-50185550 on Build GRCh38
rs1019705320 Chr.17: 50185531-50185531 on Build GRCh38
rs753857342 Chr.17: 50185457-50185457 on Build GRCh38
rs765224053 Chr.17: 50185529-50185529 on Build GRCh38
rs112873723 Chr.17: 50185526-50185526 on Build GRCh38
rs757339027 Chr.17: 50185458-50185458 on Build GRCh38
rs961105065 Chr.17: 50185534-50185534 on Build GRCh38
rs764961764 Chr.17: 50185452-50185452 on Build GRCh38
rs202170631 Chr.17: 50185486-50185486 on Build GRCh38
rs11556514 Chr.17: 50185470-50185470 on Build GRCh38
rs746061442 Chr.17: 50185459-50185459 on Build GRCh38

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