Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 45986753-45986996 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
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
5824706 c.596G>C p.R199P Chr.21: 45986951-45986951 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs201213605 Chr.21: 45986951-45986951 on Build GRCh38
rs536649872 Chr.21: 45986856-45986856 on Build GRCh38
rs552872000 Chr.21: 45986892-45986892 on Build GRCh38
rs868198274 Chr.21: 45986957-45986957 on Build GRCh38
rs369590506 Chr.21: 45986964-45986964 on Build GRCh38
rs760386863 Chr.21: 45986958-45986958 on Build GRCh38
rs566110491 Chr.21: 45986775-45986775 on Build GRCh38
rs201695574 Chr.21: 45986931-45986931 on Build GRCh38
rs747098777 Chr.21: 45986902-45986902 on Build GRCh38
rs111887380 Chr.21: 45986893-45986893 on Build GRCh38
rs954477080 Chr.21: 45986924-45986924 on Build GRCh38
rs772939701 Chr.21: 45986955-45986955 on Build GRCh38
rs199867193 Chr.21: 45986948-45986948 on Build GRCh38
rs758644548 Chr.21: 45986896-45986896 on Build GRCh38
rs1055863032 Chr.21: 45986798-45986798 on Build GRCh38
rs943889175 Chr.21: 45986850-45986850 on Build GRCh38
rs1015367935 Chr.21: 45986776-45986776 on Build GRCh38
rs372199631 Chr.21: 45986978-45986978 on Build GRCh38
rs557525385 Chr.21: 45986808-45986808 on Build GRCh38
rs573282005 Chr.21: 45986979-45986979 on Build GRCh38
rs376592866 Chr.21: 45986949-45986949 on Build GRCh38
rs749628937 Chr.21: 45986950-45986950 on Build GRCh38
rs985342849 Chr.21: 45986817-45986817 on Build GRCh38
rs961406133 Chr.21: 45986782-45986782 on Build GRCh38
rs564419637 Chr.21: 45986947-45986947 on Build GRCh38
rs1047279931 Chr.21: 45986839-45986839 on Build GRCh38
rs149391064 Chr.21: 45986891-45986891 on Build GRCh38
rs192125814 Chr.21: 45986970-45986970 on Build GRCh38
rs554986351 Chr.21: 45986858-45986858 on Build GRCh38
rs866987981 Chr.21: 45986976-45986976 on Build GRCh38
rs777932859 Chr.21: 45986897-45986897 on Build GRCh38
rs757227732 Chr.21: 45986908-45986908 on Build GRCh38
rs754391596 Chr.21: 45986900-45986901 on Build GRCh38
rs973780191 Chr.21: 45986787-45986787 on Build GRCh38
rs569738710 Chr.21: 45986849-45986849 on Build GRCh38
rs1053341298 Chr.21: 45986854-45986854 on Build GRCh38
rs886044481 Chr.21: 45986962-45986962 on Build GRCh38
rs138916267 Chr.21: 45986887-45986887 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
rs547985792 Chr.21: 45986771-45986771 on Build GRCh38

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