Product Details

Primer Sequences
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Primer Chromosome Location
Chr.21: 46115763-46116000 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
1616173 c.849A>T p.G283G Chr.21: 46115919-46115919 on Build GRCh38
1616170 c.848G>T p.G283V Chr.21: 46115918-46115918 on Build GRCh38
7261434 c.802-6delT p.? Chr.21: 46115866-46115866 on Build GRCh38
4455641 c.844A>G p.K282E Chr.21: 46115914-46115914 on Build GRCh38
4455640 c.844A>G p.K282E Chr.21: 46115914-46115914 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs267606748 Chr.21: 46115917-46115917 on Build GRCh38
rs759511304 Chr.21: 46115967-46115969 on Build GRCh38
rs752588419 Chr.21: 46115874-46115874 on Build GRCh38
rs756287137 Chr.21: 46115980-46115980 on Build GRCh38
rs761608972 Chr.21: 46115972-46115972 on Build GRCh38
rs537470543 Chr.21: 46115945-46115945 on Build GRCh38
rs397515333 Chr.21: 46115873-46115873 on Build GRCh38
rs752446622 Chr.21: 46115975-46115976 on Build GRCh38
rs766615151 Chr.21: 46115982-46115982 on Build GRCh38
rs121912940 Chr.21: 46115881-46115881 on Build GRCh38
rs191769718 Chr.21: 46115791-46115791 on Build GRCh38
rs568220664 Chr.21: 46115788-46115788 on Build GRCh38
rs763922121 Chr.21: 46115887-46115887 on Build GRCh38
rs565098928 Chr.21: 46115953-46115953 on Build GRCh38
rs762754577 Chr.21: 46115879-46115879 on Build GRCh38
rs201614683 Chr.21: 46115847-46115847 on Build GRCh38
rs886044399 Chr.21: 46115870-46115870 on Build GRCh38
rs774071265 Chr.21: 46115969-46115969 on Build GRCh38
rs757488307 Chr.21: 46115897-46115897 on Build GRCh38
rs774955835 Chr.21: 46115962-46115962 on Build GRCh38
rs764013980 Chr.21: 46115968-46115968 on Build GRCh38
rs751048194 Chr.21: 46115962-46115964 on Build GRCh38
rs140790797 Chr.21: 46115898-46115898 on Build GRCh38
rs777865946 Chr.21: 46115839-46115839 on Build GRCh38
rs765176375 Chr.21: 46115866-46115866 on Build GRCh38
rs762914509 Chr.21: 46115967-46115967 on Build GRCh38
rs769242907 Chr.21: 46115957-46115957 on Build GRCh38
rs770259974 Chr.21: 46115829-46115829 on Build GRCh38
rs794727788 Chr.21: 46115882-46115882 on Build GRCh38
rs745955750 Chr.21: 46115828-46115828 on Build GRCh38
rs373366455 Chr.21: 46115944-46115944 on Build GRCh38
rs200220416 Chr.21: 46115846-46115846 on Build GRCh38
rs759076099 Chr.21: 46115854-46115854 on Build GRCh38
rs770550118 Chr.21: 46115948-46115948 on Build GRCh38
rs1057517988 Chr.21: 46115926-46115926 on Build GRCh38
rs767636999 Chr.21: 46115973-46115973 on Build GRCh38
rs556452181 Chr.21: 46115942-46115942 on Build GRCh38
rs773021467 Chr.21: 46115838-46115838 on Build GRCh38
rs886044088 Chr.21: 46115918-46115918 on Build GRCh38
rs776075744 Chr.21: 46115849-46115849 on Build GRCh38
rs886043323 Chr.21: 46115908-46115908 on Build GRCh38
rs367904017 Chr.21: 46115834-46115834 on Build GRCh38
rs765271575 Chr.21: 46115966-46115967 on Build GRCh38
rs61735835 Chr.21: 46115902-46115902 on Build GRCh38
rs373943374 Chr.21: 46115831-46115831 on Build GRCh38
rs978032686 Chr.21: 46115883-46115883 on Build GRCh38
rs200902198 Chr.21: 46115827-46115827 on Build GRCh38
rs574660347 Chr.21: 46115949-46115949 on Build GRCh38
rs769103792 Chr.21: 46115836-46115836 on Build GRCh38
rs751337200 Chr.21: 46115896-46115896 on Build GRCh38
rs370008311 Chr.21: 46115933-46115933 on Build GRCh38
rs139130992 Chr.21: 46115907-46115907 on Build GRCh38
rs113525292 Chr.21: 46115927-46115927 on Build GRCh38
rs73908531 Chr.21: 46115842-46115842 on Build GRCh38

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