Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45986327-45986600 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
3912299 c.481C>T p.P161S Chr.21: 45986578-45986578 on Build GRCh38
6443895 c.472G>A p.D158N Chr.21: 45986569-45986569 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs1047508149 Chr.21: 45986381-45986381 on Build GRCh38
rs113682430 Chr.21: 45986425-45986425 on Build GRCh38
rs756086657 Chr.21: 45986501-45986501 on Build GRCh38
rs190029634 Chr.21: 45986496-45986496 on Build GRCh38
rs904636925 Chr.21: 45986461-45986461 on Build GRCh38
rs868272036 Chr.21: 45986533-45986533 on Build GRCh38
rs926397254 Chr.21: 45986372-45986372 on Build GRCh38
rs908178689 Chr.21: 45986420-45986420 on Build GRCh38
rs145622476 Chr.21: 45986353-45986353 on Build GRCh38
rs61388650 Chr.21: 45986442-45986442 on Build GRCh38
rs1010232525 Chr.21: 45986448-45986448 on Build GRCh38
rs993069719 Chr.21: 45986497-45986497 on Build GRCh38
rs900392694 Chr.21: 45986418-45986418 on Build GRCh38
rs1038325033 Chr.21: 45986434-45986434 on Build GRCh38
rs748270048 Chr.21: 45986566-45986566 on Build GRCh38
rs779947824 Chr.21: 45986506-45986506 on Build GRCh38
rs376741350 Chr.21: 45986391-45986391 on Build GRCh38
rs768951384 Chr.21: 45986518-45986518 on Build GRCh38
rs376650683 Chr.21: 45986568-45986568 on Build GRCh38
rs536051894 Chr.21: 45986354-45986354 on Build GRCh38
rs185362521 Chr.21: 45986488-45986488 on Build GRCh38
rs997392065 Chr.21: 45986423-45986423 on Build GRCh38
rs138191621 Chr.21: 45986431-45986431 on Build GRCh38
rs778931297 Chr.21: 45986563-45986563 on Build GRCh38
rs867218507 Chr.21: 45986554-45986554 on Build GRCh38
rs777077720 Chr.21: 45986580-45986580 on Build GRCh38
rs768310615 Chr.21: 45986411-45986412 on Build GRCh38
rs996707205 Chr.21: 45986453-45986453 on Build GRCh38
rs771408273 Chr.21: 45986578-45986578 on Build GRCh38
rs1002083012 Chr.21: 45986467-45986467 on Build GRCh38
rs891230395 Chr.21: 45986456-45986456 on Build GRCh38
rs939089893 Chr.21: 45986393-45986393 on Build GRCh38
rs1056069253 Chr.21: 45986394-45986394 on Build GRCh38
rs1049577216 Chr.21: 45986455-45986455 on Build GRCh38
rs941806554 Chr.21: 45986535-45986535 on Build GRCh38
rs565762910 Chr.21: 45986424-45986424 on Build GRCh38
rs747557222 Chr.21: 45986574-45986574 on Build GRCh38
rs375177807 Chr.21: 45986515-45986515 on Build GRCh38
rs773280332 Chr.21: 45986571-45986571 on Build GRCh38
rs781164042 Chr.21: 45986531-45986531 on Build GRCh38
rs756761439 Chr.21: 45986494-45986494 on Build GRCh38
rs750452623 Chr.21: 45986499-45986499 on Build GRCh38
rs554444896 Chr.21: 45986361-45986361 on Build GRCh38
rs741956 Chr.21: 45986507-45986507 on Build GRCh38

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