Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 237340299-237340883 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
COL6A3
Entrez Gene ID
1293
Gene Name
collagen type VI alpha 3 chain
Gene Aliases
BTHLM1, DYT27, UCMD1
UniGene
Hs.233240
Gene Chromosome Location
Chr.2: 237324012-237434822 on Build GRCh38
Transcripts
NM_004369.3 NM_057166.4 NM_057167.3 XM_005246065.1 XM_005246066.1 XM_006712253.1 XM_011510574.1 XM_017003303.1 XM_017003304.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
300043 c.8401T>C p.S2801P Chr.2: 237340515-237340515 on Build GRCh38
3391593 c.8244G>A p.P2748P Chr.2: 237340672-237340672 on Build GRCh38
7429527 c.8232G>T p.T2744T Chr.2: 237340684-237340684 on Build GRCh38
1757045 c.8314C>T p.L2772L Chr.2: 237340602-237340602 on Build GRCh38
3579584 c.8063C>T p.S2688F Chr.2: 237340853-237340853 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs775200499 Chr.2: 237340500-237340500 on Build GRCh38
rs563467108 Chr.2: 237340364-237340364 on Build GRCh38
rs745703097 Chr.2: 237340445-237340445 on Build GRCh38
rs779036168 Chr.2: 237340626-237340626 on Build GRCh38
rs980294027 Chr.2: 237340619-237340619 on Build GRCh38
rs371361651 Chr.2: 237340485-237340485 on Build GRCh38
rs368129741 Chr.2: 237340758-237340758 on Build GRCh38
rs113423040 Chr.2: 237340558-237340558 on Build GRCh38
rs770586429 Chr.2: 237340652-237340652 on Build GRCh38
rs572018781 Chr.2: 237340510-237340510 on Build GRCh38
rs780134165 Chr.2: 237340522-237340522 on Build GRCh38
rs777050897 Chr.2: 237340757-237340757 on Build GRCh38
rs149890179 Chr.2: 237340609-237340609 on Build GRCh38
rs765805523 Chr.2: 237340423-237340423 on Build GRCh38
rs755777148 Chr.2: 237340772-237340772 on Build GRCh38
rs138466455 Chr.2: 237340727-237340727 on Build GRCh38
rs766090287 Chr.2: 237340602-237340602 on Build GRCh38
rs756813710 Chr.2: 237340768-237340768 on Build GRCh38
rs766217603 Chr.2: 237340606-237340606 on Build GRCh38
rs61729844 Chr.2: 237340465-237340465 on Build GRCh38
rs35911211 Chr.2: 237340570-237340570 on Build GRCh38
rs957705259 Chr.2: 237340802-237340802 on Build GRCh38
rs1054986241 Chr.2: 237340345-237340345 on Build GRCh38
rs771781114 Chr.2: 237340481-237340481 on Build GRCh38
rs750159070 Chr.2: 237340516-237340516 on Build GRCh38
rs772476740 Chr.2: 237340749-237340749 on Build GRCh38
rs1009967912 Chr.2: 237340364-237340365 on Build GRCh38
rs763395740 Chr.2: 237340557-237340557 on Build GRCh38
rs770214487 Chr.2: 237340543-237340543 on Build GRCh38
rs760879445 Chr.2: 237340752-237340752 on Build GRCh38
rs111395856 Chr.2: 237340680-237340680 on Build GRCh38
rs750723659 Chr.2: 237340593-237340593 on Build GRCh38
rs1031349800 Chr.2: 237340789-237340789 on Build GRCh38
rs752450810 Chr.2: 237340760-237340760 on Build GRCh38
rs771203220 Chr.2: 237340806-237340806 on Build GRCh38
rs115757876 Chr.2: 237340819-237340819 on Build GRCh38
rs398124136 Chr.2: 237340432-237340432 on Build GRCh38
rs569907876 Chr.2: 237340539-237340539 on Build GRCh38
rs759913146 Chr.2: 237340419-237340419 on Build GRCh38
rs144130137 Chr.2: 237340659-237340659 on Build GRCh38
rs115171119 Chr.2: 237340458-237340458 on Build GRCh38
rs754977455 Chr.2: 237340527-237340527 on Build GRCh38
rs140441798 Chr.2: 237340723-237340723 on Build GRCh38
rs794727603 Chr.2: 237340572-237340572 on Build GRCh38
rs780869389 Chr.2: 237340719-237340719 on Build GRCh38
rs113754336 Chr.2: 237340672-237340672 on Build GRCh38
rs773301394 Chr.2: 237340750-237340750 on Build GRCh38
rs114643468 Chr.2: 237340576-237340576 on Build GRCh38
rs534728020 Chr.2: 237340681-237340681 on Build GRCh38
rs762702382 Chr.2: 237340828-237340828 on Build GRCh38
rs373108028 Chr.2: 237340748-237340748 on Build GRCh38
rs1048185541 Chr.2: 237340360-237340360 on Build GRCh38
rs1030226088 Chr.2: 237340350-237340350 on Build GRCh38
rs771258396 Chr.2: 237340754-237340754 on Build GRCh38
rs762902561 Chr.2: 237340761-237340761 on Build GRCh38
rs201460305 Chr.2: 237340531-237340531 on Build GRCh38
rs1032020366 Chr.2: 237340753-237340753 on Build GRCh38
rs886043574 Chr.2: 237340488-237340488 on Build GRCh38
rs886044644 Chr.2: 237340608-237340608 on Build GRCh38
rs900775500 Chr.2: 237340390-237340390 on Build GRCh38
rs377635244 Chr.2: 237340405-237340405 on Build GRCh38
rs770508359 Chr.2: 237340441-237340441 on Build GRCh38
rs114156709 Chr.2: 237340378-237340378 on Build GRCh38
rs775318733 Chr.2: 237340825-237340825 on Build GRCh38
rs138683303 Chr.2: 237340459-237340459 on Build GRCh38
rs375442243 Chr.2: 237340501-237340501 on Build GRCh38
rs373680762 Chr.2: 237340685-237340685 on Build GRCh38
rs199707923 Chr.2: 237340440-237340440 on Build GRCh38
rs757378213 Chr.2: 237340503-237340503 on Build GRCh38
rs768347756 Chr.2: 237340471-237340471 on Build GRCh38
rs769124771 Chr.2: 237340660-237340660 on Build GRCh38
rs756294311 Chr.2: 237340599-237340599 on Build GRCh38
rs781514010 Chr.2: 237340509-237340509 on Build GRCh38
rs549305354 Chr.2: 237340426-237340426 on Build GRCh38
rs757988361 Chr.2: 237340636-237340636 on Build GRCh38
rs141344389 Chr.2: 237340704-237340704 on Build GRCh38
rs748491825 Chr.2: 237340776-237340776 on Build GRCh38
rs752742099 Chr.2: 237340424-237340424 on Build GRCh38
rs775790310 Chr.2: 237340653-237340653 on Build GRCh38
rs746608405 Chr.2: 237340646-237340646 on Build GRCh38
rs35848091 Chr.2: 237340502-237340502 on Build GRCh38
rs773466421 Chr.2: 237340648-237340648 on Build GRCh38
rs533433290 Chr.2: 237340335-237340335 on Build GRCh38
rs886044347 Chr.2: 237340541-237340541 on Build GRCh38
rs746208987 Chr.2: 237340542-237340542 on Build GRCh38
rs765020205 Chr.2: 237340759-237340759 on Build GRCh38
rs112456538 Chr.2: 237340351-237340351 on Build GRCh38
rs115116398 Chr.2: 237340715-237340715 on Build GRCh38
rs543288654 Chr.2: 237340346-237340346 on Build GRCh38
rs115595706 Chr.2: 237340673-237340673 on Build GRCh38
rs144541891 Chr.2: 237340703-237340703 on Build GRCh38
rs777961435 Chr.2: 237340428-237340428 on Build GRCh38
rs772602377 Chr.2: 237340779-237340779 on Build GRCh38
rs914709867 Chr.2: 237340427-237340427 on Build GRCh38
rs751561315 Chr.2: 237340842-237340842 on Build GRCh38
rs778195223 Chr.2: 237340794-237340794 on Build GRCh38
rs747725992 Chr.2: 237340536-237340536 on Build GRCh38
rs747588645 Chr.2: 237340627-237340627 on Build GRCh38
rs886044361 Chr.2: 237340755-237340755 on Build GRCh38
rs35763271 Chr.2: 237340771-237340771 on Build GRCh38
rs769656291 Chr.2: 237340484-237340484 on Build GRCh38
rs146131332 Chr.2: 237340479-237340479 on Build GRCh38
rs948847037 Chr.2: 237340616-237340616 on Build GRCh38
rs747073702 Chr.2: 237340804-237340804 on Build GRCh38
rs772967228 Chr.2: 237340540-237340540 on Build GRCh38
rs774261088 Chr.2: 237340563-237340563 on Build GRCh38
rs777282155 Chr.2: 237340713-237340713 on Build GRCh38
rs536700038 Chr.2: 237340851-237340851 on Build GRCh38
rs571287679 Chr.2: 237340480-237340480 on Build GRCh38
rs779148504 Chr.2: 237340741-237340741 on Build GRCh38
rs751453783 Chr.2: 237340818-237340818 on Build GRCh38
rs377467505 Chr.2: 237340404-237340404 on Build GRCh38
rs907941419 Chr.2: 237340815-237340815 on Build GRCh38
rs777289447 Chr.2: 237340638-237340638 on Build GRCh38
rs776858630 Chr.2: 237340818-237340818 on Build GRCh38
rs763974888 Chr.2: 237340766-237340766 on Build GRCh38
rs886042689 Chr.2: 237340843-237340843 on Build GRCh38
rs765644550 Chr.2: 237340491-237340491 on Build GRCh38
rs756868781 Chr.2: 237340716-237340716 on Build GRCh38
rs754870088 Chr.2: 237340698-237340698 on Build GRCh38
rs774977061 Chr.2: 237340661-237340661 on Build GRCh38
rs564447688 Chr.2: 237340324-237340324 on Build GRCh38
rs753264980 Chr.2: 237340495-237340495 on Build GRCh38
rs767616648 Chr.2: 237340573-237340573 on Build GRCh38
rs371571488 Chr.2: 237340841-237340841 on Build GRCh38
rs754928408 Chr.2: 237340621-237340621 on Build GRCh38
rs765253665 Chr.2: 237340702-237340702 on Build GRCh38
rs111764507 Chr.2: 237340707-237340707 on Build GRCh38
rs367744524 Chr.2: 237340521-237340521 on Build GRCh38
rs969160751 Chr.2: 237340834-237340834 on Build GRCh38
rs779286281 Chr.2: 237340775-237340775 on Build GRCh38
rs749169391 Chr.2: 237340523-237340523 on Build GRCh38
rs954511060 Chr.2: 237340366-237340366 on Build GRCh38

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