Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 48567063-48567294 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
COL7A1
Entrez Gene ID
1294
Gene Name
collagen type VII alpha 1
Gene Aliases
EBD1, EBDCT, EBR1, NDNC8
UniGene
Hs.476218
Gene Chromosome Location
Chr.3: 48564073-48595302 on Build GRCh38
Transcripts
NM_000094.3 XM_011533337.1 XM_017005688.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1578881 c.8065G>A p.G2689R Chr.3: 48567172-48567172 on Build GRCh38
6633758 c.8053C>T p.R2685* Chr.3: 48567184-48567184 on Build GRCh38
730658 c.8074G>T p.G2692C Chr.3: 48567163-48567163 on Build GRCh38
6097858 c.8107C>A p.R2703R Chr.3: 48567130-48567130 on Build GRCh38
1309217 c.8054G>A p.R2685Q Chr.3: 48567183-48567183 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs2532846 Chr.3: 48567206-48567206 on Build GRCh38
rs918559357 Chr.3: 48567247-48567247 on Build GRCh38
rs185429200 Chr.3: 48567194-48567194 on Build GRCh38
rs772881674 Chr.3: 48567090-48567090 on Build GRCh38
rs747362988 Chr.3: 48567179-48567179 on Build GRCh38
rs546054756 Chr.3: 48567173-48567173 on Build GRCh38
rs759039839 Chr.3: 48567130-48567130 on Build GRCh38
rs199936185 Chr.3: 48567143-48567143 on Build GRCh38
rs766627776 Chr.3: 48567233-48567233 on Build GRCh38
rs2633954 Chr.3: 48567088-48567088 on Build GRCh38
rs200938473 Chr.3: 48567142-48567142 on Build GRCh38
rs1009871059 Chr.3: 48567160-48567160 on Build GRCh38
rs777496090 Chr.3: 48567159-48567159 on Build GRCh38
rs950088075 Chr.3: 48567263-48567263 on Build GRCh38
rs886058629 Chr.3: 48567129-48567129 on Build GRCh38
rs201968323 Chr.3: 48567089-48567089 on Build GRCh38
rs758623851 Chr.3: 48567131-48567131 on Build GRCh38
rs745693541 Chr.3: 48567088-48567089 on Build GRCh38
rs1057518863 Chr.3: 48567190-48567190 on Build GRCh38
rs1050797523 Chr.3: 48567127-48567127 on Build GRCh38
rs898438416 Chr.3: 48567183-48567183 on Build GRCh38
rs765289524 Chr.3: 48567112-48567112 on Build GRCh38
rs777140960 Chr.3: 48567195-48567195 on Build GRCh38
rs755638917 Chr.3: 48567155-48567155 on Build GRCh38
rs986012377 Chr.3: 48567212-48567212 on Build GRCh38
rs886058630 Chr.3: 48567183-48567183 on Build GRCh38
rs559661393 Chr.3: 48567252-48567252 on Build GRCh38
rs750637776 Chr.3: 48567125-48567125 on Build GRCh38
rs761936886 Chr.3: 48567094-48567094 on Build GRCh38
rs373249097 Chr.3: 48567231-48567231 on Build GRCh38
rs777041901 Chr.3: 48567093-48567093 on Build GRCh38
rs201481305 Chr.3: 48567217-48567217 on Build GRCh38
rs189838334 Chr.3: 48567225-48567225 on Build GRCh38
rs2532847 Chr.3: 48567207-48567207 on Build GRCh38
rs375863934 Chr.3: 48567099-48567099 on Build GRCh38
rs748087213 Chr.3: 48567152-48567152 on Build GRCh38
rs754832776 Chr.3: 48567146-48567146 on Build GRCh38
rs748940147 Chr.3: 48567172-48567172 on Build GRCh38
rs1019884090 Chr.3: 48567171-48567171 on Build GRCh38
rs2532845 Chr.3: 48567086-48567086 on Build GRCh38
rs368916742 Chr.3: 48567149-48567149 on Build GRCh38

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