Product Details

Primer Sequences
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Primer Chromosome Location
Chr.17: 50186238-50186743 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
4402223 c.3816A>G p.G1272G Chr.17: 50186506-50186506 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
5625793 c.3898G>T p.V1300L Chr.17: 50186424-50186424 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs138544681 Chr.17: 50186357-50186357 on Build GRCh38
rs780472683 Chr.17: 50186457-50186457 on Build GRCh38
rs781680401 Chr.17: 50186642-50186642 on Build GRCh38
rs754753032 Chr.17: 50186405-50186405 on Build GRCh38
rs188887858 Chr.17: 50186416-50186416 on Build GRCh38
rs74315166 Chr.17: 50186660-50186672 on Build GRCh38
rs780452624 Chr.17: 50186621-50186621 on Build GRCh38
rs147104425 Chr.17: 50186343-50186343 on Build GRCh38
rs202131429 Chr.17: 50186682-50186682 on Build GRCh38
rs774664983 Chr.17: 50186271-50186271 on Build GRCh38
rs112830882 Chr.17: 50186638-50186638 on Build GRCh38
rs750106647 Chr.17: 50186306-50186306 on Build GRCh38
rs756783195 Chr.17: 50186703-50186703 on Build GRCh38
rs374789134 Chr.17: 50186278-50186278 on Build GRCh38
rs774001209 Chr.17: 50186675-50186675 on Build GRCh38
rs981880473 Chr.17: 50186305-50186305 on Build GRCh38
rs72656342 Chr.17: 50186493-50186493 on Build GRCh38
rs143049736 Chr.17: 50186446-50186446 on Build GRCh38
rs148216434 Chr.17: 50186688-50186688 on Build GRCh38
rs764820114 Chr.17: 50186301-50186301 on Build GRCh38
rs778417218 Chr.17: 50186312-50186312 on Build GRCh38
rs762492398 Chr.17: 50186514-50186514 on Build GRCh38
rs758017565 Chr.17: 50186614-50186615 on Build GRCh38
rs200786916 Chr.17: 50186548-50186548 on Build GRCh38
rs199911681 Chr.17: 50186473-50186473 on Build GRCh38
rs200145743 Chr.17: 50186344-50186344 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
rs192986202 Chr.17: 50186424-50186424 on Build GRCh38
rs201746814 Chr.17: 50186408-50186408 on Build GRCh38
rs775462973 Chr.17: 50186684-50186684 on Build GRCh38
rs918420911 Chr.17: 50186480-50186480 on Build GRCh38
rs923683427 Chr.17: 50186587-50186587 on Build GRCh38
rs757536774 Chr.17: 50186437-50186437 on Build GRCh38
rs772353130 Chr.17: 50186447-50186447 on Build GRCh38
rs957125158 Chr.17: 50186353-50186353 on Build GRCh38
rs947675891 Chr.17: 50186546-50186546 on Build GRCh38
rs745506447 Chr.17: 50186706-50186706 on Build GRCh38
rs770591923 Chr.17: 50186372-50186372 on Build GRCh38
rs762734680 Chr.17: 50186366-50186366 on Build GRCh38
rs757301758 Chr.17: 50186592-50186592 on Build GRCh38
rs753996458 Chr.17: 50186590-50186590 on Build GRCh38
rs994196345 Chr.17: 50186722-50186722 on Build GRCh38
rs779153248 Chr.17: 50186603-50186603 on Build GRCh38
rs781614679 Chr.17: 50186700-50186700 on Build GRCh38
rs949616859 Chr.17: 50186294-50186294 on Build GRCh38
rs914896397 Chr.17: 50186650-50186650 on Build GRCh38
rs772750234 Chr.17: 50186476-50186476 on Build GRCh38
rs994102132 Chr.17: 50186490-50186490 on Build GRCh38
rs886042609 Chr.17: 50186383-50186383 on Build GRCh38
rs372290536 Chr.17: 50186689-50186689 on Build GRCh38
rs756297543 Chr.17: 50186335-50186335 on Build GRCh38
rs747464024 Chr.17: 50186327-50186327 on Build GRCh38
rs751420762 Chr.17: 50186380-50186380 on Build GRCh38
rs769202328 Chr.17: 50186629-50186629 on Build GRCh38
rs72656341 Chr.17: 50186648-50186648 on Build GRCh38
rs1003284599 Chr.17: 50186562-50186562 on Build GRCh38
rs1048377927 Chr.17: 50186291-50186291 on Build GRCh38
rs770355998 Chr.17: 50186659-50186659 on Build GRCh38
rs754984293 Chr.17: 50186328-50186328 on Build GRCh38
rs3205325 Chr.17: 50186702-50186702 on Build GRCh38
rs367834596 Chr.17: 50186537-50186537 on Build GRCh38
rs145008436 Chr.17: 50186273-50186273 on Build GRCh38
rs759172608 Chr.17: 50186681-50186681 on Build GRCh38
rs956461667 Chr.17: 50186608-50186611 on Build GRCh38
rs201066018 Chr.17: 50186519-50186519 on Build GRCh38
rs748620595 Chr.17: 50186701-50186701 on Build GRCh38
rs775998962 Chr.17: 50186356-50186356 on Build GRCh38
rs764652852 Chr.17: 50186346-50186346 on Build GRCh38
rs772792964 Chr.17: 50186364-50186364 on Build GRCh38
rs72656344 Chr.17: 50186355-50186355 on Build GRCh38
rs761428107 Chr.17: 50186285-50186285 on Build GRCh38
rs2586487 Chr.17: 50186704-50186704 on Build GRCh38
rs373624129 Chr.17: 50186525-50186525 on Build GRCh38
rs1052652342 Chr.17: 50186611-50186611 on Build GRCh38
rs868166455 Chr.17: 50186319-50186319 on Build GRCh38
rs764729498 Chr.17: 50186359-50186359 on Build GRCh38
rs113984451 Chr.17: 50186316-50186316 on Build GRCh38
rs756207463 Chr.17: 50186418-50186418 on Build GRCh38
rs778077946 Chr.17: 50186337-50186337 on Build GRCh38
rs528349466 Chr.17: 50186313-50186313 on Build GRCh38
rs199514372 Chr.17: 50186721-50186721 on Build GRCh38
rs369742817 Chr.17: 50186341-50186341 on Build GRCh38
rs72656343 Chr.17: 50186386-50186386 on Build GRCh38
rs776240941 Chr.17: 50186284-50186284 on Build GRCh38
rs112938445 Chr.17: 50186604-50186604 on Build GRCh38
rs770568983 Chr.17: 50186517-50186517 on Build GRCh38
rs72656340 Chr.17: 50186664-50186664 on Build GRCh38
rs185277813 Chr.17: 50186557-50186557 on Build GRCh38
rs751874729 Chr.17: 50186697-50186697 on Build GRCh38
rs142128554 Chr.17: 50186340-50186340 on Build GRCh38
rs766709517 Chr.17: 50186693-50186693 on Build GRCh38
rs148659814 Chr.17: 50186329-50186329 on Build GRCh38
rs371904584 Chr.17: 50186699-50186699 on Build GRCh38
rs201070506 Chr.17: 50186334-50186334 on Build GRCh38
rs766059440 Chr.17: 50186377-50186377 on Build GRCh38
rs771333800 Chr.17: 50186266-50186266 on Build GRCh38
rs916737596 Chr.17: 50186286-50186286 on Build GRCh38
rs747485519 Chr.17: 50186623-50186623 on Build GRCh38
rs72656345 Chr.17: 50186348-50186348 on Build GRCh38
rs34940368 Chr.17: 50186425-50186425 on Build GRCh38
rs779734368 Chr.17: 50186682-50186688 on Build GRCh38
rs572950705 Chr.17: 50186645-50186645 on Build GRCh38
rs2277632 Chr.17: 50186542-50186542 on Build GRCh38
rs976959070 Chr.17: 50186479-50186479 on Build GRCh38
rs1018910017 Chr.17: 50186716-50186716 on Build GRCh38
rs376524129 Chr.17: 50186717-50186717 on Build GRCh38
rs779121150 Chr.17: 50186441-50186441 on Build GRCh38
rs886039880 Chr.17: 50186387-50186387 on Build GRCh38
rs553175744 Chr.17: 50186614-50186614 on Build GRCh38

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