Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 48564956-48565191 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
112098 c.8565_8566insCC p.S2856fs*43 Chr.3: 48565163-48565164 on Build GRCh38
6010969 c.8605C>T p.P2869S Chr.3: 48565124-48565124 on Build GRCh38
4584428 c.8575T>G p.S2859A Chr.3: 48565154-48565154 on Build GRCh38
4607114 c.8558C>T p.S2853F Chr.3: 48565171-48565171 on Build GRCh38
4118218 c.8635C>T p.P2879S Chr.3: 48564966-48564966 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs746146532 Chr.3: 48565118-48565118 on Build GRCh38
rs148454724 Chr.3: 48565161-48565161 on Build GRCh38
rs749395019 Chr.3: 48565098-48565098 on Build GRCh38
rs1036649782 Chr.3: 48565078-48565078 on Build GRCh38
rs931027097 Chr.3: 48564994-48564994 on Build GRCh38
rs532051347 Chr.3: 48565077-48565077 on Build GRCh38
rs368947460 Chr.3: 48565146-48565146 on Build GRCh38
rs779889929 Chr.3: 48565134-48565134 on Build GRCh38
rs763590683 Chr.3: 48565021-48565021 on Build GRCh38
rs1001325189 Chr.3: 48565094-48565094 on Build GRCh38
rs41290684 Chr.3: 48565086-48565086 on Build GRCh38
rs35631233 Chr.3: 48565091-48565092 on Build GRCh38
rs777935673 Chr.3: 48565096-48565096 on Build GRCh38
rs772717870 Chr.3: 48565163-48565163 on Build GRCh38
rs757458214 Chr.3: 48565106-48565106 on Build GRCh38
rs774144118 Chr.3: 48564975-48564975 on Build GRCh38
rs913050647 Chr.3: 48565056-48565056 on Build GRCh38
rs756027476 Chr.3: 48565020-48565021 on Build GRCh38
rs371875773 Chr.3: 48565012-48565012 on Build GRCh38
rs775264233 Chr.3: 48565008-48565008 on Build GRCh38
rs751914144 Chr.3: 48565085-48565085 on Build GRCh38
rs771747896 Chr.3: 48565119-48565119 on Build GRCh38
rs1003879036 Chr.3: 48565051-48565051 on Build GRCh38
rs753245446 Chr.3: 48565092-48565092 on Build GRCh38
rs771938414 Chr.3: 48564990-48564990 on Build GRCh38
rs921039191 Chr.3: 48564977-48564977 on Build GRCh38
rs761395853 Chr.3: 48565059-48565059 on Build GRCh38
rs762728307 Chr.3: 48565165-48565165 on Build GRCh38
rs138432078 Chr.3: 48565089-48565090 on Build GRCh38
rs886734235 Chr.3: 48565042-48565042 on Build GRCh38
rs138595277 Chr.3: 48565090-48565091 on Build GRCh38
rs756755395 Chr.3: 48565093-48565093 on Build GRCh38
rs372166543 Chr.3: 48565160-48565160 on Build GRCh38
rs1048066291 Chr.3: 48565010-48565010 on Build GRCh38
rs896727342 Chr.3: 48565083-48565083 on Build GRCh38
rs777583032 Chr.3: 48565076-48565076 on Build GRCh38
rs778969774 Chr.3: 48565117-48565117 on Build GRCh38
rs767974409 Chr.3: 48565087-48565087 on Build GRCh38
rs374925168 Chr.3: 48565028-48565028 on Build GRCh38
rs7624006 Chr.3: 48565090-48565090 on Build GRCh38
rs367975034 Chr.3: 48564983-48564983 on Build GRCh38
rs768592959 Chr.3: 48565151-48565151 on Build GRCh38

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