Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45987035-45987528 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
2822086 c.750C>T p.F250F Chr.21: 45987510-45987510 on Build GRCh38
6633515 c.759+9_759+10insC p.? Chr.21: 45987528-45987529 on Build GRCh38
4135067 c.709G>T p.D237Y Chr.21: 45987064-45987064 on Build GRCh38
6029562 c.730G>A p.E244K Chr.21: 45987167-45987167 on Build GRCh38
6862338 c.726C>T p.N242N Chr.21: 45987163-45987163 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs745602733 Chr.21: 45987214-45987214 on Build GRCh38
rs770861683 Chr.21: 45987102-45987102 on Build GRCh38
rs1006622027 Chr.21: 45987251-45987251 on Build GRCh38
rs982810256 Chr.21: 45987339-45987339 on Build GRCh38
rs1000361166 Chr.21: 45987445-45987445 on Build GRCh38
rs766100827 Chr.21: 45987232-45987232 on Build GRCh38
rs764561298 Chr.21: 45987482-45987482 on Build GRCh38
rs992837951 Chr.21: 45987340-45987340 on Build GRCh38
rs904455758 Chr.21: 45987455-45987455 on Build GRCh38
rs776884988 Chr.21: 45987463-45987463 on Build GRCh38
rs144843800 Chr.21: 45987481-45987481 on Build GRCh38
rs778277317 Chr.21: 45987496-45987496 on Build GRCh38
rs780831950 Chr.21: 45987131-45987131 on Build GRCh38
rs771965187 Chr.21: 45987456-45987456 on Build GRCh38
rs183868804 Chr.21: 45987081-45987081 on Build GRCh38
rs965382563 Chr.21: 45987282-45987282 on Build GRCh38
rs556996397 Chr.21: 45987449-45987449 on Build GRCh38
rs374517899 Chr.21: 45987426-45987426 on Build GRCh38
rs567032530 Chr.21: 45987381-45987381 on Build GRCh38
rs765803236 Chr.21: 45987197-45987197 on Build GRCh38
rs751157870 Chr.21: 45987253-45987253 on Build GRCh38
rs1036344679 Chr.21: 45987350-45987350 on Build GRCh38
rs367669227 Chr.21: 45987217-45987217 on Build GRCh38
rs557153744 Chr.21: 45987164-45987164 on Build GRCh38
rs1024831382 Chr.21: 45987490-45987490 on Build GRCh38
rs751332422 Chr.21: 45987083-45987083 on Build GRCh38
rs566896100 Chr.21: 45987094-45987094 on Build GRCh38
rs940724931 Chr.21: 45987349-45987349 on Build GRCh38
rs200557184 Chr.21: 45987113-45987113 on Build GRCh38
rs753012458 Chr.21: 45987202-45987202 on Build GRCh38
rs576435781 Chr.21: 45987190-45987190 on Build GRCh38
rs548634821 Chr.21: 45987380-45987380 on Build GRCh38
rs372618333 Chr.21: 45987457-45987457 on Build GRCh38
rs778289062 Chr.21: 45987485-45987486 on Build GRCh38
rs533725138 Chr.21: 45987271-45987271 on Build GRCh38
rs184225117 Chr.21: 45987405-45987405 on Build GRCh38
rs886057149 Chr.21: 45987490-45987490 on Build GRCh38
rs941462455 Chr.21: 45987359-45987359 on Build GRCh38
rs762867111 Chr.21: 45987076-45987076 on Build GRCh38
rs753305527 Chr.21: 45987476-45987476 on Build GRCh38
rs775349013 Chr.21: 45987072-45987072 on Build GRCh38
rs747366844 Chr.21: 45987489-45987489 on Build GRCh38
rs374896651 Chr.21: 45987189-45987189 on Build GRCh38
rs369946755 Chr.21: 45987494-45987494 on Build GRCh38
rs759626248 Chr.21: 45987473-45987473 on Build GRCh38
rs776322976 Chr.21: 45987213-45987224 on Build GRCh38
rs920877687 Chr.21: 45987388-45987388 on Build GRCh38
rs373394656 Chr.21: 45987105-45987105 on Build GRCh38
rs113969925 Chr.21: 45987073-45987073 on Build GRCh38
rs1034152489 Chr.21: 45987458-45987458 on Build GRCh38
rs187649260 Chr.21: 45987203-45987203 on Build GRCh38
rs62215498 Chr.21: 45987448-45987448 on Build GRCh38
rs771338763 Chr.21: 45987488-45987489 on Build GRCh38
rs1019919651 Chr.21: 45987454-45987454 on Build GRCh38
rs766602951 Chr.21: 45987193-45987193 on Build GRCh38
rs755793406 Chr.21: 45987493-45987493 on Build GRCh38
rs768584912 Chr.21: 45987226-45987226 on Build GRCh38
rs753948039 Chr.21: 45987194-45987194 on Build GRCh38
rs978578673 Chr.21: 45987311-45987311 on Build GRCh38
rs774044672 Chr.21: 45987161-45987161 on Build GRCh38
rs558687936 Chr.21: 45987297-45987297 on Build GRCh38
rs761961077 Chr.21: 45987088-45987088 on Build GRCh38
rs1006653373 Chr.21: 45987404-45987404 on Build GRCh38
rs890115766 Chr.21: 45987229-45987229 on Build GRCh38
rs908596070 Chr.21: 45987343-45987343 on Build GRCh38
rs941525757 Chr.21: 45987195-45987195 on Build GRCh38
rs200973353 Chr.21: 45987109-45987109 on Build GRCh38
rs192616290 Chr.21: 45987301-45987301 on Build GRCh38
rs754548369 Chr.21: 45987270-45987270 on Build GRCh38
rs1041381096 Chr.21: 45987427-45987427 on Build GRCh38
rs755507811 Chr.21: 45987106-45987106 on Build GRCh38
rs536786554 Chr.21: 45987060-45987060 on Build GRCh38
rs917330371 Chr.21: 45987342-45987342 on Build GRCh38
rs370725821 Chr.21: 45987114-45987114 on Build GRCh38
rs748108912 Chr.21: 45987346-45987346 on Build GRCh38
rs142102852 Chr.21: 45987163-45987163 on Build GRCh38
rs889249271 Chr.21: 45987401-45987401 on Build GRCh38
rs201136430 Chr.21: 45987221-45987221 on Build GRCh38
rs1050603903 Chr.21: 45987397-45987397 on Build GRCh38
rs1020660391 Chr.21: 45987294-45987294 on Build GRCh38
rs199802096 Chr.21: 45987218-45987218 on Build GRCh38
rs147612667 Chr.21: 45987157-45987157 on Build GRCh38
rs891404688 Chr.21: 45987410-45987410 on Build GRCh38
rs1008540059 Chr.21: 45987245-45987245 on Build GRCh38
rs559795661 Chr.21: 45987241-45987241 on Build GRCh38
rs531033030 Chr.21: 45987337-45987337 on Build GRCh38
rs573196191 Chr.21: 45987486-45987486 on Build GRCh38
rs373438206 Chr.21: 45987134-45987134 on Build GRCh38
rs927104970 Chr.21: 45987333-45987333 on Build GRCh38
rs544502169 Chr.21: 45987451-45987451 on Build GRCh38
rs1050572453 Chr.21: 45987223-45987223 on Build GRCh38
rs765717045 Chr.21: 45987095-45987095 on Build GRCh38
rs113013628 Chr.21: 45987300-45987300 on Build GRCh38
rs765677187 Chr.21: 45987475-45987475 on Build GRCh38
rs1000009752 Chr.21: 45987291-45987291 on Build GRCh38
rs751820515 Chr.21: 45987487-45987487 on Build GRCh38
rs777986401 Chr.21: 45987204-45987204 on Build GRCh38
rs1009897609 Chr.21: 45987283-45987283 on Build GRCh38
rs778494336 Chr.21: 45987141-45987142 on Build GRCh38
rs902892281 Chr.21: 45987430-45987430 on Build GRCh38
rs755567232 Chr.21: 45987196-45987196 on Build GRCh38
rs145269003 Chr.21: 45987061-45987061 on Build GRCh38
rs374034428 Chr.21: 45987267-45987267 on Build GRCh38
rs571435860 Chr.21: 45987425-45987425 on Build GRCh38
rs377408965 Chr.21: 45987107-45987107 on Build GRCh38
rs114454809 Chr.21: 45987104-45987104 on Build GRCh38
rs534274493 Chr.21: 45987389-45987389 on Build GRCh38
rs886044087 Chr.21: 45987489-45987489 on Build GRCh38
rs1038957374 Chr.21: 45987199-45987199 on Build GRCh38
rs774978469 Chr.21: 45987143-45987143 on Build GRCh38
rs971370248 Chr.21: 45987330-45987330 on Build GRCh38
rs889555211 Chr.21: 45987242-45987242 on Build GRCh38
rs377587209 Chr.21: 45987135-45987135 on Build GRCh38
rs978599387 Chr.21: 45987125-45987125 on Build GRCh38
rs868089371 Chr.21: 45987200-45987200 on Build GRCh38

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