Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 121828508-121828781 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
BBS7
Entrez Gene ID
55212
Gene Name
Bardet-Biedl syndrome 7
Gene Aliases
BBS2L1
UniGene
Hs.591694
Gene Chromosome Location
Chr.4: 121824329-121870520 on Build GRCh38
Transcripts
NM_018190.3 NM_176824.2 XM_005263106.3 XM_011532079.2 XM_011532080.2 XM_011532081.2 XM_017008357.1 XM_017008358.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6276565 c.1786+10C>A p.? Chr.4: 121828609-121828609 on Build GRCh38
3008435 c.1717A>G p.I573V Chr.4: 121828688-121828688 on Build GRCh38
3599628 c.1726C>T p.L576L Chr.4: 121828679-121828679 on Build GRCh38
6413282 c.1730A>T p.K577I Chr.4: 121828675-121828675 on Build GRCh38
4472264 c.1771C>T p.L591F Chr.4: 121828634-121828634 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs767363576 Chr.4: 121828651-121828651 on Build GRCh38
rs765782762 Chr.4: 121828684-121828684 on Build GRCh38
rs777324298 Chr.4: 121828719-121828719 on Build GRCh38
rs747737287 Chr.4: 121828701-121828701 on Build GRCh38
rs745842757 Chr.4: 121828743-121828743 on Build GRCh38
rs747246136 Chr.4: 121828606-121828609 on Build GRCh38
rs759310647 Chr.4: 121828641-121828641 on Build GRCh38
rs751029709 Chr.4: 121828688-121828688 on Build GRCh38
rs878853352 Chr.4: 121828692-121828693 on Build GRCh38
rs775655387 Chr.4: 121828652-121828652 on Build GRCh38
rs753913484 Chr.4: 121828671-121828671 on Build GRCh38
rs774282290 Chr.4: 121828625-121828625 on Build GRCh38
rs938747332 Chr.4: 121828680-121828680 on Build GRCh38
rs747876810 Chr.4: 121828540-121828540 on Build GRCh38
rs770484168 Chr.4: 121828734-121828734 on Build GRCh38
rs761005946 Chr.4: 121828666-121828666 on Build GRCh38
rs748768695 Chr.4: 121828728-121828728 on Build GRCh38
rs774265460 Chr.4: 121828742-121828742 on Build GRCh38
rs948931394 Chr.4: 121828546-121828546 on Build GRCh38
rs551176983 Chr.4: 121828620-121828620 on Build GRCh38
rs201834782 Chr.4: 121828586-121828588 on Build GRCh38
rs772581246 Chr.4: 121828533-121828533 on Build GRCh38
rs988217771 Chr.4: 121828567-121828569 on Build GRCh38
rs755746935 Chr.4: 121828704-121828704 on Build GRCh38
rs780980216 Chr.4: 121828535-121828535 on Build GRCh38
rs761923235 Chr.4: 121828744-121828744 on Build GRCh38
rs764244818 Chr.4: 121828669-121828669 on Build GRCh38
rs768928188 Chr.4: 121828692-121828693 on Build GRCh38
rs776691595 Chr.4: 121828693-121828694 on Build GRCh38
rs1044927725 Chr.4: 121828556-121828556 on Build GRCh38
rs748773977 Chr.4: 121828595-121828595 on Build GRCh38
rs769156189 Chr.4: 121828574-121828574 on Build GRCh38
rs758831295 Chr.4: 121828692-121828692 on Build GRCh38
rs200953128 Chr.4: 121828676-121828676 on Build GRCh38
rs780606095 Chr.4: 121828698-121828698 on Build GRCh38
rs772831514 Chr.4: 121828587-121828587 on Build GRCh38

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