Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50185791-50185941 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
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
237223 c.4161C>T p.A1387A Chr.17: 50185865-50185865 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs3205509 Chr.17: 50185891-50185891 on Build GRCh38
rs954167907 Chr.17: 50185906-50185906 on Build GRCh38
rs770826227 Chr.17: 50185812-50185812 on Build GRCh38
rs72656348 Chr.17: 50185863-50185863 on Build GRCh38
rs745816283 Chr.17: 50185850-50185850 on Build GRCh38
rs750954783 Chr.17: 50185894-50185894 on Build GRCh38
rs376024832 Chr.17: 50185872-50185872 on Build GRCh38
rs146035171 Chr.17: 50185830-50185830 on Build GRCh38
rs780908692 Chr.17: 50185838-50185838 on Build GRCh38
rs902407269 Chr.17: 50185837-50185837 on Build GRCh38
rs759574605 Chr.17: 50185815-50185815 on Build GRCh38
rs764510425 Chr.17: 50185826-50185826 on Build GRCh38
rs768808806 Chr.17: 50185858-50185858 on Build GRCh38
rs952458984 Chr.17: 50185896-50185896 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
rs77448028 Chr.17: 50185818-50185818 on Build GRCh38
rs754194952 Chr.17: 50185828-50185828 on Build GRCh38
rs373474549 Chr.17: 50185843-50185843 on Build GRCh38
rs757759451 Chr.17: 50185829-50185829 on Build GRCh38
rs774210351 Chr.17: 50185848-50185848 on Build GRCh38
rs762848021 Chr.17: 50185831-50185831 on Build GRCh38
rs760860681 Chr.17: 50185825-50185825 on Build GRCh38
rs886041552 Chr.17: 50185916-50185916 on Build GRCh38
rs763622311 Chr.17: 50185912-50185912 on Build GRCh38
rs987181448 Chr.17: 50185907-50185907 on Build GRCh38
rs760920715 Chr.17: 50185856-50185856 on Build GRCh38
rs886053159 Chr.17: 50185886-50185886 on Build GRCh38
rs41316723 Chr.17: 50185913-50185913 on Build GRCh38
rs397514672 Chr.17: 50185866-50185866 on Build GRCh38
rs1028377152 Chr.17: 50185876-50185876 on Build GRCh38
rs754481870 Chr.17: 50185834-50185834 on Build GRCh38
rs145381116 Chr.17: 50185816-50185817 on Build GRCh38
rs762042426 Chr.17: 50185877-50185877 on Build GRCh38
rs755763693 Chr.17: 50185844-50185844 on Build GRCh38
rs1046079035 Chr.17: 50185817-50185817 on Build GRCh38
rs756188663 Chr.17: 50185885-50185885 on Build GRCh38
rs772121804 Chr.17: 50185851-50185851 on Build GRCh38
rs765712898 Chr.17: 50185882-50185882 on Build GRCh38
rs752506222 Chr.17: 50185816-50185816 on Build GRCh38
rs774298199 Chr.17: 50185814-50185814 on Build GRCh38
rs2586486 Chr.17: 50185855-50185855 on Build GRCh38
rs370410110 Chr.17: 50185854-50185854 on Build GRCh38
rs780049218 Chr.17: 50185892-50185892 on Build GRCh38

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