Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 121828007-121828532 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
6043803 c.1964A>G p.H655R Chr.4: 121828196-121828196 on Build GRCh38
6454227 c.1963C>G p.H655D Chr.4: 121828197-121828197 on Build GRCh38
4760839 c.1920C>A p.N640K Chr.4: 121828240-121828240 on Build GRCh38
1732244 c.1961A>T p.D654V Chr.4: 121828199-121828199 on Build GRCh38
7224622 c.1842G>T p.E614D Chr.4: 121828450-121828450 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs771380744 Chr.4: 121828254-121828254 on Build GRCh38
rs569060795 Chr.4: 121828346-121828346 on Build GRCh38
rs1025225599 Chr.4: 121828147-121828147 on Build GRCh38
rs753795840 Chr.4: 121828171-121828171 on Build GRCh38
rs1025653695 Chr.4: 121828474-121828474 on Build GRCh38
rs755246149 Chr.4: 121828316-121828316 on Build GRCh38
rs201096775 Chr.4: 121828218-121828218 on Build GRCh38
rs759359910 Chr.4: 121828464-121828464 on Build GRCh38
rs766069591 Chr.4: 121828439-121828439 on Build GRCh38
rs756139233 Chr.4: 121828504-121828504 on Build GRCh38
rs750147015 Chr.4: 121828192-121828192 on Build GRCh38
rs752970955 Chr.4: 121828486-121828486 on Build GRCh38
rs773500635 Chr.4: 121828116-121828116 on Build GRCh38
rs772355304 Chr.4: 121828392-121828393 on Build GRCh38
rs907255739 Chr.4: 121828229-121828229 on Build GRCh38
rs758219185 Chr.4: 121828193-121828193 on Build GRCh38
rs767009543 Chr.4: 121828136-121828136 on Build GRCh38
rs779336319 Chr.4: 121828149-121828150 on Build GRCh38
rs775220366 Chr.4: 121828145-121828145 on Build GRCh38
rs529167020 Chr.4: 121828329-121828329 on Build GRCh38
rs1507994 Chr.4: 121828386-121828386 on Build GRCh38
rs746195596 Chr.4: 121828192-121828192 on Build GRCh38
rs760248041 Chr.4: 121828150-121828150 on Build GRCh38
rs761350391 Chr.4: 121828387-121828387 on Build GRCh38
rs898667497 Chr.4: 121828073-121828073 on Build GRCh38
rs769405089 Chr.4: 121828423-121828423 on Build GRCh38
rs533083489 Chr.4: 121828246-121828246 on Build GRCh38
rs138212739 Chr.4: 121828214-121828214 on Build GRCh38
rs770114345 Chr.4: 121828100-121828100 on Build GRCh38
rs769397744 Chr.4: 121828295-121828295 on Build GRCh38
rs575839166 Chr.4: 121828066-121828066 on Build GRCh38
rs778125779 Chr.4: 121828355-121828355 on Build GRCh38
rs544819963 Chr.4: 121828090-121828090 on Build GRCh38
rs767528818 Chr.4: 121828314-121828314 on Build GRCh38
rs368818326 Chr.4: 121828384-121828384 on Build GRCh38
rs1040978407 Chr.4: 121828204-121828204 on Build GRCh38
rs863224529 Chr.4: 121828172-121828174 on Build GRCh38
rs762992473 Chr.4: 121828435-121828435 on Build GRCh38
rs375084239 Chr.4: 121828169-121828169 on Build GRCh38
rs777109093 Chr.4: 121828096-121828096 on Build GRCh38
rs2706793 Chr.4: 121828281-121828281 on Build GRCh38
rs1032076450 Chr.4: 121828252-121828252 on Build GRCh38
rs773771144 Chr.4: 121828244-121828244 on Build GRCh38
rs974942529 Chr.4: 121828362-121828362 on Build GRCh38
rs1013002037 Chr.4: 121828148-121828148 on Build GRCh38
rs757308523 Chr.4: 121828181-121828181 on Build GRCh38
rs771169397 Chr.4: 121828378-121828378 on Build GRCh38
rs765019619 Chr.4: 121828286-121828286 on Build GRCh38
rs767666142 Chr.4: 121828480-121828480 on Build GRCh38
rs148486244 Chr.4: 121828098-121828098 on Build GRCh38
rs751753954 Chr.4: 121828312-121828312 on Build GRCh38
rs762117093 Chr.4: 121828059-121828059 on Build GRCh38
rs1047826441 Chr.4: 121828038-121828038 on Build GRCh38
rs774997736 Chr.4: 121828261-121828261 on Build GRCh38
rs983169048 Chr.4: 121828456-121828456 on Build GRCh38
rs672601379 Chr.4: 121828192-121828193 on Build GRCh38
rs763404489 Chr.4: 121828123-121828123 on Build GRCh38
rs779382577 Chr.4: 121828383-121828383 on Build GRCh38
rs756228493 Chr.4: 121828318-121828318 on Build GRCh38
rs773019785 Chr.4: 121828434-121828434 on Build GRCh38
rs980757532 Chr.4: 121828167-121828167 on Build GRCh38
rs1057519027 Chr.4: 121828271-121828271 on Build GRCh38
rs749868720 Chr.4: 121828375-121828375 on Build GRCh38
rs1002629673 Chr.4: 121828489-121828489 on Build GRCh38
rs765240912 Chr.4: 121828182-121828182 on Build GRCh38
rs374280992 Chr.4: 121828285-121828285 on Build GRCh38
rs908809729 Chr.4: 121828042-121828042 on Build GRCh38
rs549307054 Chr.4: 121828331-121828331 on Build GRCh38
rs751309863 Chr.4: 121828444-121828444 on Build GRCh38
rs1038527929 Chr.4: 121828051-121828051 on Build GRCh38
rs560226284 Chr.4: 121828310-121828310 on Build GRCh38
rs748634596 Chr.4: 121828237-121828237 on Build GRCh38
rs868612038 Chr.4: 121828447-121828447 on Build GRCh38
rs770239209 Chr.4: 121828243-121828243 on Build GRCh38
rs933004600 Chr.4: 121828032-121828032 on Build GRCh38
rs781292175 Chr.4: 121828225-121828225 on Build GRCh38
rs747314114 Chr.4: 121828215-121828215 on Build GRCh38
rs113786007 Chr.4: 121828185-121828185 on Build GRCh38
rs754277167 Chr.4: 121828505-121828505 on Build GRCh38
rs955963097 Chr.4: 121828276-121828276 on Build GRCh38
rs143632090 Chr.4: 121828200-121828200 on Build GRCh38
rs760444037 Chr.4: 121828280-121828280 on Build GRCh38
rs940266837 Chr.4: 121828044-121828044 on Build GRCh38
rs1044486579 Chr.4: 121828188-121828188 on Build GRCh38

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