Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 48566559-48566800 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
5922301 c.8285C>T p.P2762L Chr.3: 48566679-48566679 on Build GRCh38
1328180 c.8290G>A p.E2764K Chr.3: 48566674-48566674 on Build GRCh38
4118219 c.8238T>C p.G2746G Chr.3: 48566726-48566726 on Build GRCh38
5922302 c.8284C>T p.P2762S Chr.3: 48566680-48566680 on Build GRCh38
3594959 c.8243C>T p.P2748L Chr.3: 48566721-48566721 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs761159131 Chr.3: 48566726-48566726 on Build GRCh38
rs374365287 Chr.3: 48566684-48566684 on Build GRCh38
rs121912853 Chr.3: 48566719-48566719 on Build GRCh38
rs778839465 Chr.3: 48566723-48566723 on Build GRCh38
rs755546809 Chr.3: 48566698-48566698 on Build GRCh38
rs374220118 Chr.3: 48566604-48566604 on Build GRCh38
rs774937909 Chr.3: 48566727-48566727 on Build GRCh38
rs374975690 Chr.3: 48566747-48566747 on Build GRCh38
rs754999451 Chr.3: 48566620-48566620 on Build GRCh38
rs752848483 Chr.3: 48566717-48566717 on Build GRCh38
rs367545925 Chr.3: 48566688-48566688 on Build GRCh38
rs141883531 Chr.3: 48566674-48566674 on Build GRCh38
rs770802348 Chr.3: 48566640-48566640 on Build GRCh38
rs920653055 Chr.3: 48566633-48566633 on Build GRCh38
rs768172048 Chr.3: 48566774-48566774 on Build GRCh38
rs780392345 Chr.3: 48566607-48566607 on Build GRCh38
rs372655141 Chr.3: 48566622-48566622 on Build GRCh38
rs774138233 Chr.3: 48566657-48566657 on Build GRCh38
rs776134707 Chr.3: 48566734-48566734 on Build GRCh38
rs368174130 Chr.3: 48566625-48566625 on Build GRCh38
rs17256786 Chr.3: 48566583-48566583 on Build GRCh38
rs755580418 Chr.3: 48566668-48566669 on Build GRCh38
rs766585624 Chr.3: 48566746-48566746 on Build GRCh38
rs768202310 Chr.3: 48566731-48566731 on Build GRCh38
rs763764765 Chr.3: 48566675-48566675 on Build GRCh38
rs139566877 Chr.3: 48566724-48566724 on Build GRCh38
rs747599747 Chr.3: 48566610-48566610 on Build GRCh38
rs748314716 Chr.3: 48566621-48566621 on Build GRCh38
rs752194611 Chr.3: 48566627-48566628 on Build GRCh38
rs752005035 Chr.3: 48566694-48566694 on Build GRCh38
rs760072405 Chr.3: 48566763-48566763 on Build GRCh38
rs759579761 Chr.3: 48566659-48566659 on Build GRCh38
rs749575902 Chr.3: 48566720-48566720 on Build GRCh38
rs750773012 Chr.3: 48566584-48566584 on Build GRCh38
rs766824798 Chr.3: 48566693-48566693 on Build GRCh38
rs761592627 Chr.3: 48566740-48566740 on Build GRCh38
rs771499958 Chr.3: 48566670-48566670 on Build GRCh38
rs377182638 Chr.3: 48566730-48566730 on Build GRCh38
rs781364388 Chr.3: 48566712-48566712 on Build GRCh38
rs41290686 Chr.3: 48566626-48566626 on Build GRCh38
rs1014123247 Chr.3: 48566704-48566704 on Build GRCh38

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