Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 46117692-46118183 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
1714104 c.1099G>A p.G367R Chr.21: 46117919-46117919 on Build GRCh38
1031506 c.1111G>A p.G371S Chr.21: 46117931-46117931 on Build GRCh38
4673953 c.1110C>T p.G370G Chr.21: 46117930-46117930 on Build GRCh38
6368132 c.1079C>T p.A360V Chr.21: 46117899-46117899 on Build GRCh38
1031507 c.1111G>A p.G371S Chr.21: 46117931-46117931 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1057382847 Chr.21: 46118062-46118062 on Build GRCh38
rs376055881 Chr.21: 46117835-46117835 on Build GRCh38
rs759513214 Chr.21: 46117858-46117858 on Build GRCh38
rs762738666 Chr.21: 46117867-46117867 on Build GRCh38
rs947560560 Chr.21: 46117773-46117773 on Build GRCh38
rs397696532 Chr.21: 46117755-46117756 on Build GRCh38
rs374673302 Chr.21: 46117915-46117915 on Build GRCh38
rs538649461 Chr.21: 46117949-46117949 on Build GRCh38
rs751593447 Chr.21: 46117824-46117824 on Build GRCh38
rs770469999 Chr.21: 46117829-46117829 on Build GRCh38
rs372058939 Chr.21: 46117839-46117839 on Build GRCh38
rs545415375 Chr.21: 46118061-46118061 on Build GRCh38
rs749602589 Chr.21: 46117968-46117969 on Build GRCh38
rs779261321 Chr.21: 46118068-46118068 on Build GRCh38
rs545344381 Chr.21: 46117780-46117780 on Build GRCh38
rs930488052 Chr.21: 46117785-46117785 on Build GRCh38
rs111592472 Chr.21: 46117958-46117958 on Build GRCh38
rs188184732 Chr.21: 46117880-46117880 on Build GRCh38
rs975970689 Chr.21: 46117928-46117928 on Build GRCh38
rs988846589 Chr.21: 46117753-46117754 on Build GRCh38
rs543344988 Chr.21: 46118086-46118086 on Build GRCh38
rs958464541 Chr.21: 46117738-46117738 on Build GRCh38
rs934787948 Chr.21: 46117729-46117729 on Build GRCh38
rs570314343 Chr.21: 46118052-46118052 on Build GRCh38
rs776130263 Chr.21: 46117967-46117968 on Build GRCh38
rs185386035 Chr.21: 46117818-46117818 on Build GRCh38
rs910381777 Chr.21: 46117984-46117984 on Build GRCh38
rs770391768 Chr.21: 46117843-46117843 on Build GRCh38
rs767026683 Chr.21: 46117960-46117960 on Build GRCh38
rs374880857 Chr.21: 46117853-46117853 on Build GRCh38
rs374998754 Chr.21: 46117846-46117846 on Build GRCh38
rs780751015 Chr.21: 46117911-46117911 on Build GRCh38
rs899422658 Chr.21: 46117833-46117833 on Build GRCh38
rs186505289 Chr.21: 46118048-46118048 on Build GRCh38
rs764329460 Chr.21: 46118112-46118112 on Build GRCh38
rs755331674 Chr.21: 46117888-46117888 on Build GRCh38
rs886043730 Chr.21: 46117861-46117864 on Build GRCh38
rs1038394275 Chr.21: 46117828-46117828 on Build GRCh38
rs368588676 Chr.21: 46117917-46117917 on Build GRCh38
rs765159965 Chr.21: 46117860-46117860 on Build GRCh38
rs1045471624 Chr.21: 46118080-46118080 on Build GRCh38
rs573836738 Chr.21: 46117770-46117770 on Build GRCh38
rs387906609 Chr.21: 46117916-46117916 on Build GRCh38
rs576052103 Chr.21: 46118081-46118081 on Build GRCh38
rs5844252 Chr.21: 46117752-46117753 on Build GRCh38
rs757317444 Chr.21: 46117834-46117834 on Build GRCh38
rs764316020 Chr.21: 46117823-46117823 on Build GRCh38
rs913958116 Chr.21: 46118014-46118014 on Build GRCh38
rs1006470692 Chr.21: 46118096-46118096 on Build GRCh38
rs78263045 Chr.21: 46118030-46118030 on Build GRCh38
rs764251094 Chr.21: 46117871-46117871 on Build GRCh38
rs760925502 Chr.21: 46118067-46118067 on Build GRCh38
rs7279347 Chr.21: 46117968-46117968 on Build GRCh38
rs533913213 Chr.21: 46118148-46118148 on Build GRCh38
rs887502305 Chr.21: 46118085-46118085 on Build GRCh38
rs965829260 Chr.21: 46118006-46118006 on Build GRCh38
rs561425339 Chr.21: 46118117-46118117 on Build GRCh38
rs794727061 Chr.21: 46117883-46117883 on Build GRCh38
rs12483267 Chr.21: 46118157-46118157 on Build GRCh38
rs572705108 Chr.21: 46118024-46118024 on Build GRCh38
rs565019568 Chr.21: 46118139-46118139 on Build GRCh38
rs559441855 Chr.21: 46117776-46117776 on Build GRCh38
rs568846152 Chr.21: 46117962-46117962 on Build GRCh38
rs1056102772 Chr.21: 46117782-46117782 on Build GRCh38
rs371161891 Chr.21: 46117930-46117930 on Build GRCh38
rs993150460 Chr.21: 46118102-46118102 on Build GRCh38
rs1013675709 Chr.21: 46118075-46118075 on Build GRCh38
rs531107734 Chr.21: 46117790-46117790 on Build GRCh38
rs199883742 Chr.21: 46117942-46117942 on Build GRCh38
rs115156393 Chr.21: 46118059-46118059 on Build GRCh38
rs762160379 Chr.21: 46117936-46117936 on Build GRCh38
rs754323559 Chr.21: 46117963-46117963 on Build GRCh38
rs773985025 Chr.21: 46117933-46117933 on Build GRCh38
rs887625863 Chr.21: 46117863-46117863 on Build GRCh38
rs1007477193 Chr.21: 46118133-46118133 on Build GRCh38
rs533372765 Chr.21: 46117779-46117779 on Build GRCh38
rs199929757 Chr.21: 46117890-46117890 on Build GRCh38
rs751754421 Chr.21: 46117877-46117877 on Build GRCh38
rs563995432 Chr.21: 46117784-46117784 on Build GRCh38
rs985960983 Chr.21: 46117802-46117802 on Build GRCh38
rs368726576 Chr.21: 46117836-46117836 on Build GRCh38
rs34461927 Chr.21: 46117937-46117938 on Build GRCh38
rs780892264 Chr.21: 46117837-46117837 on Build GRCh38
rs746727003 Chr.21: 46117891-46117891 on Build GRCh38
rs947553704 Chr.21: 46118026-46118026 on Build GRCh38
rs976172497 Chr.21: 46118013-46118013 on Build GRCh38
rs867328383 Chr.21: 46118127-46118127 on Build GRCh38
rs1030185081 Chr.21: 46118149-46118149 on Build GRCh38
rs563959808 Chr.21: 46118069-46118069 on Build GRCh38
rs760771257 Chr.21: 46117959-46117959 on Build GRCh38
rs550266258 Chr.21: 46117847-46117847 on Build GRCh38
rs528699217 Chr.21: 46118130-46118130 on Build GRCh38
rs7279535 Chr.21: 46118136-46118136 on Build GRCh38
rs114067391 Chr.21: 46117774-46117774 on Build GRCh38
rs770462436 Chr.21: 46117897-46117897 on Build GRCh38
rs139038256 Chr.21: 46118158-46118158 on Build GRCh38
rs755420546 Chr.21: 46117967-46117967 on Build GRCh38
rs397819886 Chr.21: 46117754-46117755 on Build GRCh38
rs180796593 Chr.21: 46117975-46117975 on Build GRCh38
rs768542626 Chr.21: 46117931-46117931 on Build GRCh38
rs886044023 Chr.21: 46117872-46117872 on Build GRCh38
rs780651079 Chr.21: 46117882-46117882 on Build GRCh38
rs770428180 Chr.21: 46117856-46117856 on Build GRCh38
rs961976211 Chr.21: 46117778-46117778 on Build GRCh38
rs1013958298 Chr.21: 46117955-46117955 on Build GRCh38
rs775273346 Chr.21: 46117862-46117862 on Build GRCh38
rs952093249 Chr.21: 46118129-46118129 on Build GRCh38
rs767744331 Chr.21: 46117878-46117878 on Build GRCh38
rs780632550 Chr.21: 46117840-46117840 on Build GRCh38

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