Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45986781-45987274 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
4296789 c.623C>T p.T208M Chr.21: 45986978-45986978 on Build GRCh38
1201954 c.632G>A p.R211H Chr.21: 45986987-45986987 on Build GRCh38
4135067 c.709G>T p.D237Y Chr.21: 45987064-45987064 on Build GRCh38
6277255 c.602G>T p.S201I Chr.21: 45986957-45986957 on Build GRCh38
6577112 c.605T>G p.I202S Chr.21: 45986960-45986960 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs745602733 Chr.21: 45987214-45987214 on Build GRCh38
rs1006622027 Chr.21: 45987251-45987251 on Build GRCh38
rs770861683 Chr.21: 45987102-45987102 on Build GRCh38
rs369590506 Chr.21: 45986964-45986964 on Build GRCh38
rs115292913 Chr.21: 45987000-45987000 on Build GRCh38
rs947497339 Chr.21: 45987002-45987002 on Build GRCh38
rs766100827 Chr.21: 45987232-45987232 on Build GRCh38
rs750465594 Chr.21: 45987001-45987001 on Build GRCh38
rs760386863 Chr.21: 45986958-45986958 on Build GRCh38
rs139148709 Chr.21: 45987051-45987051 on Build GRCh38
rs747098777 Chr.21: 45986902-45986902 on Build GRCh38
rs954477080 Chr.21: 45986924-45986924 on Build GRCh38
rs758644548 Chr.21: 45986896-45986896 on Build GRCh38
rs780831950 Chr.21: 45987131-45987131 on Build GRCh38
rs943889175 Chr.21: 45986850-45986850 on Build GRCh38
rs183868804 Chr.21: 45987081-45987081 on Build GRCh38
rs943925031 Chr.21: 45986987-45986987 on Build GRCh38
rs557525385 Chr.21: 45986808-45986808 on Build GRCh38
rs950115468 Chr.21: 45986983-45986983 on Build GRCh38
rs749628937 Chr.21: 45986950-45986950 on Build GRCh38
rs765803236 Chr.21: 45987197-45987197 on Build GRCh38
rs751157870 Chr.21: 45987253-45987253 on Build GRCh38
rs1047279931 Chr.21: 45986839-45986839 on Build GRCh38
rs529325521 Chr.21: 45986997-45986997 on Build GRCh38
rs142231749 Chr.21: 45986981-45986981 on Build GRCh38
rs149391064 Chr.21: 45986891-45986891 on Build GRCh38
rs866987981 Chr.21: 45986976-45986976 on Build GRCh38
rs560001473 Chr.21: 45987019-45987019 on Build GRCh38
rs367669227 Chr.21: 45987217-45987217 on Build GRCh38
rs557153744 Chr.21: 45987164-45987164 on Build GRCh38
rs1053341298 Chr.21: 45986854-45986854 on Build GRCh38
rs751332422 Chr.21: 45987083-45987083 on Build GRCh38
rs566896100 Chr.21: 45987094-45987094 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
rs536649872 Chr.21: 45986856-45986856 on Build GRCh38
rs375217284 Chr.21: 45986986-45986986 on Build GRCh38
rs762867111 Chr.21: 45987076-45987076 on Build GRCh38
rs775349013 Chr.21: 45987072-45987072 on Build GRCh38
rs199842980 Chr.21: 45987022-45987022 on Build GRCh38
rs374896651 Chr.21: 45987189-45987189 on Build GRCh38
rs376592866 Chr.21: 45986949-45986949 on Build GRCh38
rs776322976 Chr.21: 45987213-45987224 on Build GRCh38
rs985342849 Chr.21: 45986817-45986817 on Build GRCh38
rs770597799 Chr.21: 45987035-45987035 on Build GRCh38
rs113969925 Chr.21: 45987073-45987073 on Build GRCh38
rs373394656 Chr.21: 45987105-45987105 on Build GRCh38
rs187649260 Chr.21: 45987203-45987203 on Build GRCh38
rs777932859 Chr.21: 45986897-45986897 on Build GRCh38
rs754391596 Chr.21: 45986900-45986901 on Build GRCh38
rs757227732 Chr.21: 45986908-45986908 on Build GRCh38
rs766602951 Chr.21: 45987193-45987193 on Build GRCh38
rs886043858 Chr.21: 45987029-45987029 on Build GRCh38
rs138916267 Chr.21: 45986887-45986887 on Build GRCh38
rs768584912 Chr.21: 45987226-45987226 on Build GRCh38
rs753948039 Chr.21: 45987194-45987194 on Build GRCh38
rs774044672 Chr.21: 45987161-45987161 on Build GRCh38
rs761961077 Chr.21: 45987088-45987088 on Build GRCh38
rs201213605 Chr.21: 45986951-45986951 on Build GRCh38
rs890115766 Chr.21: 45987229-45987229 on Build GRCh38
rs941525757 Chr.21: 45987195-45987195 on Build GRCh38
rs200973353 Chr.21: 45987109-45987109 on Build GRCh38
rs780638665 Chr.21: 45987020-45987020 on Build GRCh38
rs111887380 Chr.21: 45986893-45986893 on Build GRCh38
rs772939701 Chr.21: 45986955-45986955 on Build GRCh38
rs755507811 Chr.21: 45987106-45987106 on Build GRCh38
rs756609103 Chr.21: 45987012-45987012 on Build GRCh38
rs536786554 Chr.21: 45987060-45987060 on Build GRCh38
rs370725821 Chr.21: 45987114-45987114 on Build GRCh38
rs573282005 Chr.21: 45986979-45986979 on Build GRCh38
rs142102852 Chr.21: 45987163-45987163 on Build GRCh38
rs569642530 Chr.21: 45987025-45987025 on Build GRCh38
rs201136430 Chr.21: 45987221-45987221 on Build GRCh38
rs564419637 Chr.21: 45986947-45986947 on Build GRCh38
rs199802096 Chr.21: 45987218-45987218 on Build GRCh38
rs554986351 Chr.21: 45986858-45986858 on Build GRCh38
rs192125814 Chr.21: 45986970-45986970 on Build GRCh38
rs147612667 Chr.21: 45987157-45987157 on Build GRCh38
rs372581026 Chr.21: 45987021-45987021 on Build GRCh38
rs757468787 Chr.21: 45986999-45986999 on Build GRCh38
rs559795661 Chr.21: 45987241-45987241 on Build GRCh38
rs1008540059 Chr.21: 45987245-45987245 on Build GRCh38
rs886044481 Chr.21: 45986962-45986962 on Build GRCh38
rs373438206 Chr.21: 45987134-45987134 on Build GRCh38
rs1028686739 Chr.21: 45986904-45986904 on Build GRCh38
rs368545556 Chr.21: 45986946-45986946 on Build GRCh38
rs113510334 Chr.21: 45986942-45986942 on Build GRCh38
rs540036205 Chr.21: 45986799-45986799 on Build GRCh38
rs1050572453 Chr.21: 45987223-45987223 on Build GRCh38
rs552000247 Chr.21: 45987024-45987024 on Build GRCh38
rs868198274 Chr.21: 45986957-45986957 on Build GRCh38
rs552872000 Chr.21: 45986892-45986892 on Build GRCh38
rs765717045 Chr.21: 45987095-45987095 on Build GRCh38
rs777986401 Chr.21: 45987204-45987204 on Build GRCh38
rs201695574 Chr.21: 45986931-45986931 on Build GRCh38
rs199867193 Chr.21: 45986948-45986948 on Build GRCh38
rs778494336 Chr.21: 45987141-45987142 on Build GRCh38
rs372199631 Chr.21: 45986978-45986978 on Build GRCh38
rs755567232 Chr.21: 45987196-45987196 on Build GRCh38
rs145269003 Chr.21: 45987061-45987061 on Build GRCh38
rs114454809 Chr.21: 45987104-45987104 on Build GRCh38
rs377408965 Chr.21: 45987107-45987107 on Build GRCh38
rs1038957374 Chr.21: 45987199-45987199 on Build GRCh38
rs774978469 Chr.21: 45987143-45987143 on Build GRCh38
rs369123247 Chr.21: 45986996-45986996 on Build GRCh38
rs889555211 Chr.21: 45987242-45987242 on Build GRCh38
rs978599387 Chr.21: 45987125-45987125 on Build GRCh38
rs377587209 Chr.21: 45987135-45987135 on Build GRCh38
rs868089371 Chr.21: 45987200-45987200 on Build GRCh38
rs569738710 Chr.21: 45986849-45986849 on Build GRCh38

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