Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50186590-50186757 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
4956050 c.3754C>T p.R1252C Chr.17: 50186700-50186700 on Build GRCh38
980947 c.3737G>A p.R1246Q Chr.17: 50186717-50186717 on Build GRCh38
3378239 c.3814+3G>A p.? Chr.17: 50186637-50186637 on Build GRCh38
5632713 c.3761A>C p.N1254T Chr.17: 50186693-50186693 on Build GRCh38
6841789 c.3778C>T p.R1260C Chr.17: 50186676-50186676 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs72656341 Chr.17: 50186648-50186648 on Build GRCh38
rs769202328 Chr.17: 50186629-50186629 on Build GRCh38
rs778356720 Chr.17: 50186705-50186705 on Build GRCh38
rs2734275 Chr.17: 50186636-50186636 on Build GRCh38
rs750614597 Chr.17: 50186608-50186608 on Build GRCh38
rs368295399 Chr.17: 50186685-50186685 on Build GRCh38
rs775462973 Chr.17: 50186684-50186684 on Build GRCh38
rs199514372 Chr.17: 50186721-50186721 on Build GRCh38
rs781680401 Chr.17: 50186642-50186642 on Build GRCh38
rs745506447 Chr.17: 50186706-50186706 on Build GRCh38
rs373777457 Chr.17: 50186727-50186727 on Build GRCh38
rs74315166 Chr.17: 50186660-50186672 on Build GRCh38
rs770355998 Chr.17: 50186659-50186659 on Build GRCh38
rs72656340 Chr.17: 50186664-50186664 on Build GRCh38
rs768572265 Chr.17: 50186728-50186728 on Build GRCh38
rs780452624 Chr.17: 50186621-50186621 on Build GRCh38
rs994196345 Chr.17: 50186722-50186722 on Build GRCh38
rs781614679 Chr.17: 50186700-50186700 on Build GRCh38
rs751874729 Chr.17: 50186697-50186697 on Build GRCh38
rs202131429 Chr.17: 50186682-50186682 on Build GRCh38
rs766709517 Chr.17: 50186693-50186693 on Build GRCh38
rs371904584 Chr.17: 50186699-50186699 on Build GRCh38
rs3205325 Chr.17: 50186702-50186702 on Build GRCh38
rs914896397 Chr.17: 50186650-50186650 on Build GRCh38
rs112830882 Chr.17: 50186638-50186638 on Build GRCh38
rs756783195 Chr.17: 50186703-50186703 on Build GRCh38
rs774001209 Chr.17: 50186675-50186675 on Build GRCh38
rs747485519 Chr.17: 50186623-50186623 on Build GRCh38
rs759172608 Chr.17: 50186681-50186681 on Build GRCh38
rs956461667 Chr.17: 50186608-50186611 on Build GRCh38
rs779734368 Chr.17: 50186682-50186688 on Build GRCh38
rs148216434 Chr.17: 50186688-50186688 on Build GRCh38
rs372290536 Chr.17: 50186689-50186689 on Build GRCh38
rs572950705 Chr.17: 50186645-50186645 on Build GRCh38
rs748620595 Chr.17: 50186701-50186701 on Build GRCh38
rs1018910017 Chr.17: 50186716-50186716 on Build GRCh38
rs376524129 Chr.17: 50186717-50186717 on Build GRCh38
rs553175744 Chr.17: 50186614-50186614 on Build GRCh38
rs2586487 Chr.17: 50186704-50186704 on Build GRCh38
rs1052652342 Chr.17: 50186611-50186611 on Build GRCh38
rs758017565 Chr.17: 50186614-50186615 on Build GRCh38

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