Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50185633-50185890 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
6632729 c.4198G>A p.A1400T Chr.17: 50185828-50185828 on Build GRCh38
272520 c.4183G>T p.E1395* Chr.17: 50185843-50185843 on Build GRCh38
4067568 c.4248G>A p.T1416T Chr.17: 50185778-50185778 on Build GRCh38
4067569 c.4214G>A p.R1405H Chr.17: 50185812-50185812 on Build GRCh38
436822 c.4145G>A p.G1382D Chr.17: 50185881-50185881 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs72656348 Chr.17: 50185863-50185863 on Build GRCh38
rs745816283 Chr.17: 50185850-50185850 on Build GRCh38
rs146035171 Chr.17: 50185830-50185830 on Build GRCh38
rs780908692 Chr.17: 50185838-50185838 on Build GRCh38
rs931516011 Chr.17: 50185754-50185754 on Build GRCh38
rs113187869 Chr.17: 50185650-50185650 on Build GRCh38
rs768808806 Chr.17: 50185858-50185858 on Build GRCh38
rs746565111 Chr.17: 50185778-50185778 on Build GRCh38
rs1008090206 Chr.17: 50185772-50185772 on Build GRCh38
rs377379528 Chr.17: 50185852-50185852 on Build GRCh38
rs1800219 Chr.17: 50185847-50185847 on Build GRCh38
rs147266928 Chr.17: 50185845-50185845 on Build GRCh38
rs375529943 Chr.17: 50185676-50185676 on Build GRCh38
rs966661903 Chr.17: 50185651-50185651 on Build GRCh38
rs1049551573 Chr.17: 50185750-50185750 on Build GRCh38
rs760860681 Chr.17: 50185825-50185825 on Build GRCh38
rs111953130 Chr.17: 50185777-50185777 on Build GRCh38
rs769619568 Chr.17: 50185798-50185798 on Build GRCh38
rs769483364 Chr.17: 50185698-50185698 on Build GRCh38
rs754352242 Chr.17: 50185755-50185755 on Build GRCh38
rs372204030 Chr.17: 50185675-50185675 on Build GRCh38
rs771552286 Chr.17: 50185673-50185673 on Build GRCh38
rs141910281 Chr.17: 50185700-50185700 on Build GRCh38
rs757771156 Chr.17: 50185758-50185758 on Build GRCh38
rs776541846 Chr.17: 50185685-50185685 on Build GRCh38
rs1054265127 Chr.17: 50185714-50185714 on Build GRCh38
rs145381116 Chr.17: 50185816-50185817 on Build GRCh38
rs756459768 Chr.17: 50185662-50185662 on Build GRCh38
rs755763693 Chr.17: 50185844-50185844 on Build GRCh38
rs1046079035 Chr.17: 50185817-50185817 on Build GRCh38
rs772121804 Chr.17: 50185851-50185851 on Build GRCh38
rs774298199 Chr.17: 50185814-50185814 on Build GRCh38
rs574425891 Chr.17: 50185735-50185735 on Build GRCh38
rs2586486 Chr.17: 50185855-50185855 on Build GRCh38
rs1054799985 Chr.17: 50185762-50185762 on Build GRCh38
rs1046359912 Chr.17: 50185661-50185661 on Build GRCh38
rs770826227 Chr.17: 50185812-50185812 on Build GRCh38
rs369138260 Chr.17: 50185802-50185802 on Build GRCh38
rs764976595 Chr.17: 50185736-50185736 on Build GRCh38
rs902407269 Chr.17: 50185837-50185837 on Build GRCh38
rs377367699 Chr.17: 50185751-50185751 on Build GRCh38
rs759574605 Chr.17: 50185815-50185815 on Build GRCh38
rs764510425 Chr.17: 50185826-50185826 on Build GRCh38
rs759733762 Chr.17: 50185737-50185737 on Build GRCh38
rs893903709 Chr.17: 50185734-50185734 on Build GRCh38
rs398122835 Chr.17: 50185779-50185779 on Build GRCh38
rs77448028 Chr.17: 50185818-50185818 on Build GRCh38
rs779679661 Chr.17: 50185774-50185774 on Build GRCh38
rs112274185 Chr.17: 50185776-50185776 on Build GRCh38
rs754194952 Chr.17: 50185828-50185828 on Build GRCh38
rs768460126 Chr.17: 50185680-50185680 on Build GRCh38
rs373474549 Chr.17: 50185843-50185843 on Build GRCh38
rs757759451 Chr.17: 50185829-50185829 on Build GRCh38
rs773147153 Chr.17: 50185699-50185699 on Build GRCh38
rs72656349 Chr.17: 50185789-50185789 on Build GRCh38
rs774210351 Chr.17: 50185848-50185848 on Build GRCh38
rs762848021 Chr.17: 50185831-50185831 on Build GRCh38
rs778301848 Chr.17: 50185669-50185669 on Build GRCh38
rs200720904 Chr.17: 50185748-50185748 on Build GRCh38
rs369077144 Chr.17: 50185670-50185670 on Build GRCh38
rs2249492 Chr.17: 50185660-50185660 on Build GRCh38
rs760920715 Chr.17: 50185856-50185856 on Build GRCh38
rs397514672 Chr.17: 50185866-50185866 on Build GRCh38
rs754555549 Chr.17: 50185787-50185787 on Build GRCh38
rs957884821 Chr.17: 50185668-50185668 on Build GRCh38
rs754481870 Chr.17: 50185834-50185834 on Build GRCh38
rs532172482 Chr.17: 50185790-50185790 on Build GRCh38
rs201450194 Chr.17: 50185655-50185655 on Build GRCh38
rs547760567 Chr.17: 50185747-50185747 on Build GRCh38
rs552087944 Chr.17: 50185799-50185799 on Build GRCh38
rs369473898 Chr.17: 50185738-50185738 on Build GRCh38
rs200178548 Chr.17: 50185739-50185739 on Build GRCh38
rs2696244 Chr.17: 50185728-50185728 on Build GRCh38
rs752506222 Chr.17: 50185816-50185816 on Build GRCh38
rs761648794 Chr.17: 50185688-50185688 on Build GRCh38
rs370410110 Chr.17: 50185854-50185854 on Build GRCh38

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