Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45990178-45990669 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
COL6A1
Entrez Gene ID
1291
Gene Name
collagen type VI alpha 1
Gene Aliases
BTHLM1, OPLL, UCHMD1
UniGene
Hs.474053
Gene Chromosome Location
Chr.21: 45981749-46005049 on Build GRCh38
Transcripts
NM_001848.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3551639 c.985G>A p.G329R Chr.21: 45990405-45990405 on Build GRCh38
1201948 c.957+1G>A p.? Chr.21: 45990285-45990285 on Build GRCh38
6633485 c.931-1G>T p.? Chr.21: 45990257-45990257 on Build GRCh38
2822098 c.997G>A p.V333M Chr.21: 45990417-45990417 on Build GRCh38
1414532 c.958-1G>T p.? Chr.21: 45990377-45990377 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs776552921 Chr.21: 45990227-45990227 on Build GRCh38
rs767958323 Chr.21: 45990468-45990512 on Build GRCh38
rs78836670 Chr.21: 45990567-45990567 on Build GRCh38
rs553845812 Chr.21: 45990305-45990305 on Build GRCh38
rs572544563 Chr.21: 45990593-45990593 on Build GRCh38
rs778657187 Chr.21: 45990252-45990252 on Build GRCh38
rs751618547 Chr.21: 45990446-45990446 on Build GRCh38
rs201910945 Chr.21: 45990487-45990487 on Build GRCh38
rs11702174 Chr.21: 45990459-45990459 on Build GRCh38
rs781038607 Chr.21: 45990404-45990404 on Build GRCh38
rs373930345 Chr.21: 45990232-45990232 on Build GRCh38
rs886042354 Chr.21: 45990257-45990257 on Build GRCh38
rs11702175 Chr.21: 45990465-45990465 on Build GRCh38
rs1026781138 Chr.21: 45990245-45990245 on Build GRCh38
rs905077322 Chr.21: 45990228-45990228 on Build GRCh38
rs781643176 Chr.21: 45990336-45990337 on Build GRCh38
rs769346190 Chr.21: 45990471-45990471 on Build GRCh38
rs377722154 Chr.21: 45990534-45990534 on Build GRCh38
rs749536008 Chr.21: 45990471-45990490 on Build GRCh38
rs373948031 Chr.21: 45990413-45990413 on Build GRCh38
rs771229905 Chr.21: 45990261-45990261 on Build GRCh38
rs745659681 Chr.21: 45990475-45990479 on Build GRCh38
rs751417733 Chr.21: 45990402-45990402 on Build GRCh38
rs200508160 Chr.21: 45990368-45990368 on Build GRCh38
rs757782181 Chr.21: 45990467-45990471 on Build GRCh38
rs1011131641 Chr.21: 45990221-45990221 on Build GRCh38
rs749814495 Chr.21: 45990350-45990350 on Build GRCh38
rs568147495 Chr.21: 45990241-45990241 on Build GRCh38
rs368304728 Chr.21: 45990248-45990248 on Build GRCh38
rs753243535 Chr.21: 45990243-45990243 on Build GRCh38
rs886043700 Chr.21: 45990423-45990423 on Build GRCh38
rs11702055 Chr.21: 45990416-45990416 on Build GRCh38
rs72435610 Chr.21: 45990465-45990503 on Build GRCh38
rs374926748 Chr.21: 45990290-45990290 on Build GRCh38
rs568556849 Chr.21: 45990563-45990563 on Build GRCh38
rs775061189 Chr.21: 45990464-45990466 on Build GRCh38
rs763249171 Chr.21: 45990231-45990231 on Build GRCh38
rs1023089698 Chr.21: 45990586-45990586 on Build GRCh38
rs890095327 Chr.21: 45990367-45990367 on Build GRCh38
rs753113620 Chr.21: 45990230-45990230 on Build GRCh38
rs756336607 Chr.21: 45990435-45990436 on Build GRCh38
rs975597932 Chr.21: 45990518-45990518 on Build GRCh38
rs773625062 Chr.21: 45990213-45990213 on Build GRCh38
rs201105955 Chr.21: 45990582-45990582 on Build GRCh38
rs11702176 Chr.21: 45990474-45990474 on Build GRCh38
rs770596990 Chr.21: 45990462-45990465 on Build GRCh38
rs921403746 Chr.21: 45990526-45990526 on Build GRCh38
rs764935823 Chr.21: 45990463-45990467 on Build GRCh38
rs543195574 Chr.21: 45990399-45990399 on Build GRCh38
rs774645623 Chr.21: 45990298-45990298 on Build GRCh38
rs745873798 Chr.21: 45990266-45990266 on Build GRCh38
rs759301998 Chr.21: 45990462-45990463 on Build GRCh38
rs771176877 Chr.21: 45990217-45990217 on Build GRCh38
rs764704372 Chr.21: 45990393-45990393 on Build GRCh38
rs755738565 Chr.21: 45990240-45990240 on Build GRCh38
rs1017685558 Chr.21: 45990451-45990451 on Build GRCh38
rs368643049 Chr.21: 45990467-45990467 on Build GRCh38
rs145398932 Chr.21: 45990510-45990510 on Build GRCh38
rs561937340 Chr.21: 45990408-45990408 on Build GRCh38
rs200542518 Chr.21: 45990308-45990308 on Build GRCh38
rs780309033 Chr.21: 45990469-45990474 on Build GRCh38
rs982764406 Chr.21: 45990507-45990507 on Build GRCh38
rs757549538 Chr.21: 45990305-45990305 on Build GRCh38
rs199820400 Chr.21: 45990449-45990449 on Build GRCh38
rs746026745 Chr.21: 45990373-45990374 on Build GRCh38
rs764488809 Chr.21: 45990291-45990291 on Build GRCh38
rs988613007 Chr.21: 45990443-45990443 on Build GRCh38
rs1030962910 Chr.21: 45990579-45990579 on Build GRCh38
rs752614380 Chr.21: 45990319-45990319 on Build GRCh38
rs374322081 Chr.21: 45990239-45990239 on Build GRCh38
rs769108362 Chr.21: 45990351-45990351 on Build GRCh38
rs760072085 Chr.21: 45990475-45990511 on Build GRCh38
rs769449934 Chr.21: 45990434-45990434 on Build GRCh38
rs556838462 Chr.21: 45990206-45990206 on Build GRCh38
rs794727059 Chr.21: 45990283-45990283 on Build GRCh38
rs770883746 Chr.21: 45990473-45990474 on Build GRCh38
rs375638855 Chr.21: 45990369-45990369 on Build GRCh38
rs371490467 Chr.21: 45990490-45990490 on Build GRCh38
rs754503800 Chr.21: 45990307-45990307 on Build GRCh38
rs13052179 Chr.21: 45990428-45990428 on Build GRCh38
rs750145508 Chr.21: 45990238-45990238 on Build GRCh38
rs758390343 Chr.21: 45990322-45990322 on Build GRCh38
rs11701912 Chr.21: 45990414-45990414 on Build GRCh38
rs747284546 Chr.21: 45990255-45990255 on Build GRCh38
rs571905681 Chr.21: 45990331-45990331 on Build GRCh38
rs754045081 Chr.21: 45990453-45990453 on Build GRCh38
rs750768254 Chr.21: 45990468-45990475 on Build GRCh38
rs527643529 Chr.21: 45990447-45990447 on Build GRCh38
rs962929421 Chr.21: 45990513-45990513 on Build GRCh38
rs369103301 Chr.21: 45990306-45990306 on Build GRCh38
rs1043581175 Chr.21: 45990226-45990226 on Build GRCh38
rs755044992 Chr.21: 45990471-45990474 on Build GRCh38
rs886044231 Chr.21: 45990259-45990259 on Build GRCh38
rs752020299 Chr.21: 45990465-45990466 on Build GRCh38
rs774756547 Chr.21: 45990465-45990472 on Build GRCh38
rs747332457 Chr.21: 45990460-45990460 on Build GRCh38
rs886044535 Chr.21: 45990285-45990285 on Build GRCh38
rs1044882418 Chr.21: 45990644-45990644 on Build GRCh38
rs541226765 Chr.21: 45990581-45990581 on Build GRCh38
rs376276678 Chr.21: 45990427-45990427 on Build GRCh38
rs911611932 Chr.21: 45990547-45990547 on Build GRCh38
rs933693347 Chr.21: 45990200-45990200 on Build GRCh38
rs778930791 Chr.21: 45990454-45990454 on Build GRCh38
rs111649307 Chr.21: 45990497-45990497 on Build GRCh38
rs773227674 Chr.21: 45990456-45990459 on Build GRCh38
rs749376444 Chr.21: 45990443-45990444 on Build GRCh38
rs375408891 Chr.21: 45990547-45990547 on Build GRCh38
rs371841573 Chr.21: 45990253-45990253 on Build GRCh38
rs780180648 Chr.21: 45990438-45990439 on Build GRCh38
rs201523845 Chr.21: 45990324-45990324 on Build GRCh38
rs79364611 Chr.21: 45990361-45990361 on Build GRCh38
rs748701857 Chr.21: 45990457-45990457 on Build GRCh38
rs769835693 Chr.21: 45990337-45990337 on Build GRCh38
rs1002113216 Chr.21: 45990234-45990234 on Build GRCh38
rs1052022048 Chr.21: 45990622-45990622 on Build GRCh38
rs760112378 Chr.21: 45990229-45990229 on Build GRCh38
rs560380793 Chr.21: 45990583-45990583 on Build GRCh38
rs112774181 Chr.21: 45990450-45990450 on Build GRCh38
rs114745673 Chr.21: 45990340-45990340 on Build GRCh38
rs757558071 Chr.21: 45990330-45990330 on Build GRCh38
rs756502936 Chr.21: 45990468-45990474 on Build GRCh38
rs146559275 Chr.21: 45990624-45990624 on Build GRCh38
rs536918340 Chr.21: 45990499-45990499 on Build GRCh38
rs776509994 Chr.21: 45990462-45990467 on Build GRCh38
rs759134133 Chr.21: 45990430-45990430 on Build GRCh38
rs555259663 Chr.21: 45990544-45990544 on Build GRCh38
rs552588135 Chr.21: 45990448-45990448 on Build GRCh38
rs1035505425 Chr.21: 45990496-45990496 on Build GRCh38
rs774698729 Chr.21: 45990360-45990360 on Build GRCh38
rs758332867 Chr.21: 45990254-45990254 on Build GRCh38
rs779167430 Chr.21: 45990471-45990472 on Build GRCh38
rs398123629 Chr.21: 45990465-45990474 on Build GRCh38
rs374680323 Chr.21: 45990332-45990332 on Build GRCh38
rs775922305 Chr.21: 45990282-45990282 on Build GRCh38
rs371325737 Chr.21: 45990325-45990325 on Build GRCh38
rs779453806 Chr.21: 45990418-45990418 on Build GRCh38
rs11702079 Chr.21: 45990472-45990472 on Build GRCh38
rs775344473 Chr.21: 45990473-45990473 on Build GRCh38
rs1010737846 Chr.21: 45990625-45990625 on Build GRCh38
rs1003594846 Chr.21: 45990494-45990494 on Build GRCh38
rs910167672 Chr.21: 45990512-45990512 on Build GRCh38
rs867427345 Chr.21: 45990477-45990477 on Build GRCh38
rs746898286 Chr.21: 45990473-45990477 on Build GRCh38
rs866291074 Chr.21: 45990488-45990488 on Build GRCh38
rs775143867 Chr.21: 45990436-45990436 on Build GRCh38
rs760973455 Chr.21: 45990214-45990214 on Build GRCh38
rs71182416 Chr.21: 45990465-45990465 on Build GRCh38
rs138401567 Chr.21: 45990401-45990401 on Build GRCh38
rs768915487 Chr.21: 45990456-45990465 on Build GRCh38
rs201525908 Chr.21: 45990417-45990417 on Build GRCh38
rs200835287 Chr.21: 45990405-45990405 on Build GRCh38
rs770350586 Chr.21: 45990278-45990278 on Build GRCh38
rs773603262 Chr.21: 45990429-45990429 on Build GRCh38
rs11702759 Chr.21: 45990522-45990522 on Build GRCh38
rs956335281 Chr.21: 45990602-45990602 on Build GRCh38
rs794727060 Chr.21: 45990286-45990286 on Build GRCh38
rs746951317 Chr.21: 45990458-45990477 on Build GRCh38
rs772583924 Chr.21: 45990458-45990458 on Build GRCh38

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