Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 169497600-169497847 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
BBS5
Entrez Gene ID
129880
Gene Name
Bardet-Biedl syndrome 5
Gene Aliases
-
UniGene
Hs.233398
Gene Chromosome Location
Chr.2: 169479496-169506655 on Build GRCh38
Transcripts
NM_152384.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3694966 c.643A>T p.K215* Chr.2: 169497651-169497651 on Build GRCh38
4932890 c.629A>G p.K210R Chr.2: 169497637-169497637 on Build GRCh38
5465177 c.647T>G p.F216C Chr.2: 169497655-169497655 on Build GRCh38
4640348 c.619C>T p.R207C Chr.2: 169497627-169497627 on Build GRCh38
6610161 c.654A>T p.L218F Chr.2: 169497662-169497662 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs766495402 Chr.2: 169497697-169497697 on Build GRCh38
rs767606814 Chr.2: 169497720-169497720 on Build GRCh38
rs745313011 Chr.2: 169497666-169497666 on Build GRCh38
rs751819870 Chr.2: 169497698-169497698 on Build GRCh38
rs990584365 Chr.2: 169497800-169497800 on Build GRCh38
rs948896412 Chr.2: 169497705-169497705 on Build GRCh38
rs1003449386 Chr.2: 169497708-169497708 on Build GRCh38
rs779012489 Chr.2: 169497770-169497770 on Build GRCh38
rs1034898569 Chr.2: 169497733-169497733 on Build GRCh38
rs749694018 Chr.2: 169497632-169497632 on Build GRCh38
rs1043176883 Chr.2: 169497754-169497754 on Build GRCh38
rs760706516 Chr.2: 169497678-169497678 on Build GRCh38
rs113506101 Chr.2: 169497674-169497674 on Build GRCh38
rs761733450 Chr.2: 169497696-169497696 on Build GRCh38
rs369013576 Chr.2: 169497719-169497719 on Build GRCh38
rs776533440 Chr.2: 169497682-169497682 on Build GRCh38
rs939126397 Chr.2: 169497645-169497645 on Build GRCh38
rs756585020 Chr.2: 169497735-169497735 on Build GRCh38
rs768760343 Chr.2: 169497681-169497681 on Build GRCh38
rs775524491 Chr.2: 169497676-169497676 on Build GRCh38
rs904802061 Chr.2: 169497772-169497772 on Build GRCh38
rs752825558 Chr.2: 169497732-169497732 on Build GRCh38
rs530030140 Chr.2: 169497815-169497815 on Build GRCh38
rs778688256 Chr.2: 169497665-169497665 on Build GRCh38
rs146488006 Chr.2: 169497672-169497672 on Build GRCh38
rs550091367 Chr.2: 169497816-169497816 on Build GRCh38
rs961389550 Chr.2: 169497677-169497677 on Build GRCh38
rs754192069 Chr.2: 169497737-169497737 on Build GRCh38
rs567319386 Chr.2: 169497740-169497740 on Build GRCh38
rs999042998 Chr.2: 169497807-169497807 on Build GRCh38
rs770488869 Chr.2: 169497633-169497633 on Build GRCh38

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