Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50185839-50186072 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
4777567 c.4031A>C p.D1344A Chr.17: 50185995-50185995 on Build GRCh38
1750134 c.4069C>T p.L1357L Chr.17: 50185957-50185957 on Build GRCh38
272520 c.4183G>T p.E1395* Chr.17: 50185843-50185843 on Build GRCh38
4794808 c.4016G>A p.G1339D Chr.17: 50186010-50186010 on Build GRCh38
1248787 c.4070T>C p.L1357P Chr.17: 50185956-50185956 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
rs779813816 Chr.17: 50186051-50186051 on Build GRCh38
rs72656348 Chr.17: 50185863-50185863 on Build GRCh38
rs201256042 Chr.17: 50186009-50186009 on Build GRCh38
rs750954783 Chr.17: 50185894-50185894 on Build GRCh38
rs376024832 Chr.17: 50185872-50185872 on Build GRCh38
rs149820303 Chr.17: 50185959-50185959 on Build GRCh38
rs768808806 Chr.17: 50185858-50185858 on Build GRCh38
rs776648996 Chr.17: 50185995-50185995 on Build GRCh38
rs772033648 Chr.17: 50185986-50185986 on Build GRCh38
rs952458984 Chr.17: 50185896-50185896 on Build GRCh38
rs753417343 Chr.17: 50186028-50186028 on Build GRCh38
rs753536372 Chr.17: 50185946-50185946 on Build GRCh38
rs375650769 Chr.17: 50186031-50186031 on Build GRCh38
rs147936946 Chr.17: 50186008-50186008 on Build GRCh38
rs773753538 Chr.17: 50186002-50186002 on Build GRCh38
rs745797859 Chr.17: 50185985-50185985 on Build GRCh38
rs41316723 Chr.17: 50185913-50185913 on Build GRCh38
rs768810493 Chr.17: 50185988-50185988 on Build GRCh38
rs141011435 Chr.17: 50185945-50185945 on Build GRCh38
rs778644341 Chr.17: 50186032-50186032 on Build GRCh38
rs72656346 Chr.17: 50186013-50186018 on Build GRCh38
rs756188663 Chr.17: 50185885-50185885 on Build GRCh38
rs202122731 Chr.17: 50186036-50186036 on Build GRCh38
rs780049218 Chr.17: 50185892-50185892 on Build GRCh38
rs191166865 Chr.17: 50185987-50185987 on Build GRCh38
rs371547661 Chr.17: 50185996-50185996 on Build GRCh38
rs752203049 Chr.17: 50185942-50185942 on Build GRCh38
rs201920224 Chr.17: 50186053-50186053 on Build GRCh38
rs886053160 Chr.17: 50185934-50185934 on Build GRCh38
rs760040029 Chr.17: 50186017-50186017 on Build GRCh38
rs763676384 Chr.17: 50186018-50186018 on Build GRCh38
rs982770651 Chr.17: 50185968-50185968 on Build GRCh38
rs886041552 Chr.17: 50185916-50185916 on Build GRCh38
rs763622311 Chr.17: 50185912-50185912 on Build GRCh38
rs778734618 Chr.17: 50185984-50185984 on Build GRCh38
rs987181448 Chr.17: 50185907-50185907 on Build GRCh38
rs750267930 Chr.17: 50186038-50186038 on Build GRCh38
rs886053159 Chr.17: 50185886-50185886 on Build GRCh38
rs545518162 Chr.17: 50185965-50185965 on Build GRCh38
rs397514672 Chr.17: 50185866-50185866 on Build GRCh38
rs72656347 Chr.17: 50185972-50185972 on Build GRCh38
rs1028377152 Chr.17: 50185876-50185876 on Build GRCh38
rs113005305 Chr.17: 50185962-50185962 on Build GRCh38
rs762042426 Chr.17: 50185877-50185877 on Build GRCh38
rs377703930 Chr.17: 50185964-50185964 on Build GRCh38
rs758211486 Chr.17: 50186040-50186040 on Build GRCh38
rs765712898 Chr.17: 50185882-50185882 on Build GRCh38
rs193922156 Chr.17: 50186029-50186029 on Build GRCh38
rs770279565 Chr.17: 50185997-50185997 on Build GRCh38

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