Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 46111473-46111969 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
COL6A2
Entrez Gene ID
1292
Gene Name
collagen type VI alpha 2
Gene Aliases
BTHLM1, PP3610, UCMD1
UniGene
Hs.420269
Gene Chromosome Location
Chr.21: 46098071-46132849 on Build GRCh38
Transcripts
NM_001849.3 NM_058174.2 NM_058175.2 XM_011529451.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
2822184 c.43C>A p.L15M Chr.21: 46111519-46111519 on Build GRCh38
2822185 c.43C>A p.L15M Chr.21: 46111519-46111519 on Build GRCh38
6633517 c.94G>A p.E32K Chr.21: 46111570-46111570 on Build GRCh38
478666 c.2T>C p.M1T Chr.21: 46111478-46111478 on Build GRCh38
5725368 c.74T>C p.V25A Chr.21: 46111550-46111550 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs559097286 Chr.21: 46111604-46111604 on Build GRCh38
rs990785961 Chr.21: 46111857-46111857 on Build GRCh38
rs575106113 Chr.21: 46111863-46111863 on Build GRCh38
rs780348308 Chr.21: 46111623-46111623 on Build GRCh38
rs758088941 Chr.21: 46111641-46111641 on Build GRCh38
rs770405725 Chr.21: 46111936-46111936 on Build GRCh38
rs572306460 Chr.21: 46111876-46111876 on Build GRCh38
rs769828773 Chr.21: 46111949-46111949 on Build GRCh38
rs751632108 Chr.21: 46111538-46111538 on Build GRCh38
rs756505504 Chr.21: 46111621-46111621 on Build GRCh38
rs117154313 Chr.21: 46111945-46111945 on Build GRCh38
rs760481395 Chr.21: 46111497-46111497 on Build GRCh38
rs538256244 Chr.21: 46111855-46111855 on Build GRCh38
rs199759601 Chr.21: 46111518-46111518 on Build GRCh38
rs149730144 Chr.21: 46111908-46111908 on Build GRCh38
rs776572009 Chr.21: 46111594-46111594 on Build GRCh38
rs112459235 Chr.21: 46111920-46111920 on Build GRCh38
rs772646535 Chr.21: 46111562-46111562 on Build GRCh38
rs534337396 Chr.21: 46111603-46111603 on Build GRCh38
rs13047029 Chr.21: 46111789-46111789 on Build GRCh38
rs561820125 Chr.21: 46111928-46111928 on Build GRCh38
rs578127995 Chr.21: 46111597-46111597 on Build GRCh38
rs192476178 Chr.21: 46111498-46111498 on Build GRCh38
rs200797233 Chr.21: 46111601-46111601 on Build GRCh38
rs547648292 Chr.21: 46111570-46111570 on Build GRCh38
rs765568801 Chr.21: 46111509-46111509 on Build GRCh38
rs886042882 Chr.21: 46111597-46111597 on Build GRCh38
rs777526234 Chr.21: 46111617-46111617 on Build GRCh38
rs200114253 Chr.21: 46111946-46111946 on Build GRCh38
rs746513358 Chr.21: 46111931-46111931 on Build GRCh38
rs746500894 Chr.21: 46111619-46111629 on Build GRCh38
rs572064158 Chr.21: 46111628-46111628 on Build GRCh38
rs1016466684 Chr.21: 46111941-46111941 on Build GRCh38
rs757742434 Chr.21: 46111550-46111550 on Build GRCh38
rs778546141 Chr.21: 46111559-46111559 on Build GRCh38
rs560359370 Chr.21: 46111875-46111875 on Build GRCh38
rs749630520 Chr.21: 46111629-46111629 on Build GRCh38
rs763311572 Chr.21: 46111605-46111605 on Build GRCh38
rs150057026 Chr.21: 46111556-46111556 on Build GRCh38
rs975122039 Chr.21: 46111524-46111524 on Build GRCh38
rs577126834 Chr.21: 46111608-46111608 on Build GRCh38
rs145563300 Chr.21: 46111916-46111916 on Build GRCh38
rs936553942 Chr.21: 46111814-46111814 on Build GRCh38
rs867136982 Chr.21: 46111507-46111507 on Build GRCh38
rs753618068 Chr.21: 46111500-46111500 on Build GRCh38
rs545448655 Chr.21: 46111888-46111888 on Build GRCh38
rs914379126 Chr.21: 46111612-46111612 on Build GRCh38
rs751654899 Chr.21: 46111609-46111609 on Build GRCh38
rs953778915 Chr.21: 46111569-46111569 on Build GRCh38
rs542046758 Chr.21: 46111874-46111874 on Build GRCh38
rs757343964 Chr.21: 46111610-46111610 on Build GRCh38
rs556553586 Chr.21: 46111859-46111859 on Build GRCh38
rs3966318 Chr.21: 46111727-46111727 on Build GRCh38
rs770089592 Chr.21: 46111558-46111558 on Build GRCh38
rs747789257 Chr.21: 46111598-46111604 on Build GRCh38
rs4050296 Chr.21: 46111751-46111751 on Build GRCh38
rs568363712 Chr.21: 46111526-46111526 on Build GRCh38
rs1047736611 Chr.21: 46111919-46111919 on Build GRCh38
rs140890046 Chr.21: 46111560-46111560 on Build GRCh38
rs1044497015 Chr.21: 46111885-46111885 on Build GRCh38
rs199902438 Chr.21: 46111530-46111530 on Build GRCh38
rs1002883837 Chr.21: 46111911-46111911 on Build GRCh38
rs757969178 Chr.21: 46111603-46111609 on Build GRCh38
rs770842374 Chr.21: 46111593-46111593 on Build GRCh38
rs1006870503 Chr.21: 46111921-46111921 on Build GRCh38
rs767925731 Chr.21: 46111611-46111611 on Build GRCh38
rs907246795 Chr.21: 46111907-46111907 on Build GRCh38
rs750880599 Chr.21: 46111619-46111619 on Build GRCh38
rs754701639 Chr.21: 46111576-46111578 on Build GRCh38
rs796666705 Chr.21: 46111877-46111877 on Build GRCh38
rs986393872 Chr.21: 46111587-46111587 on Build GRCh38
rs111639540 Chr.21: 46111557-46111557 on Build GRCh38
rs925241035 Chr.21: 46111628-46111630 on Build GRCh38
rs759360860 Chr.21: 46111506-46111506 on Build GRCh38

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