Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 72686077-72686332 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
BBS4
Entrez Gene ID
585
Gene Name
Bardet-Biedl syndrome 4
Gene Aliases
-
UniGene
Hs.208681
Gene Chromosome Location
Chr.15: 72686179-72738476 on Build GRCh38
Transcripts
NM_001252678.1 NM_001320665.1 NM_033028.4 NR_045565.1 NR_045566.1 XM_011521848.1 XM_011521849.1 XM_011521851.1 XM_017022450.1 XM_017022451.1 XM_017022452.1 XM_017022453.1 XM_017022454.1 NR_002780.1

Gene Symbol
HIGD2B
Entrez Gene ID
123346
Gene Name
HIG1 hypoxia inducible domain family member 2B
Gene Aliases
HIGD2BP
UniGene
Hs.434111
Gene Chromosome Location
Chr.15: 72675782-72686149 on Build GRCh38
Transcripts
NM_001252678.1 NM_001320665.1 NM_033028.4 NR_045565.1 NR_045566.1 XM_011521848.1 XM_011521849.1 XM_011521851.1 XM_017022450.1 XM_017022451.1 XM_017022452.1 XM_017022453.1 XM_017022454.1 NR_002780.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5955245 c.7G>A p.E3K Chr.15: 72686234-72686234 on Build GRCh38
5971523 c.24+2T>A p.? Chr.15: 72686253-72686253 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs765224182 Chr.15: 72686256-72686256 on Build GRCh38
rs747417984 Chr.15: 72686212-72686212 on Build GRCh38
rs777516804 Chr.15: 72686311-72686311 on Build GRCh38
rs766458759 Chr.15: 72686180-72686180 on Build GRCh38
rs767417215 Chr.15: 72686161-72686161 on Build GRCh38
rs773819620 Chr.15: 72686130-72686130 on Build GRCh38
rs113994183 Chr.15: 72686235-72686235 on Build GRCh38
rs759520211 Chr.15: 72686252-72686252 on Build GRCh38
rs749834367 Chr.15: 72686305-72686305 on Build GRCh38
rs11637927 Chr.15: 72686190-72686190 on Build GRCh38
rs771900208 Chr.15: 72686225-72686225 on Build GRCh38
rs113994185 Chr.15: 72686244-72686244 on Build GRCh38
rs77973163 Chr.15: 72686118-72686118 on Build GRCh38
rs758683281 Chr.15: 72686206-72686206 on Build GRCh38
rs543735239 Chr.15: 72686239-72686239 on Build GRCh38
rs773199310 Chr.15: 72686162-72686162 on Build GRCh38
rs773979524 Chr.15: 72686216-72686216 on Build GRCh38
rs766966482 Chr.15: 72686123-72686123 on Build GRCh38
rs769894375 Chr.15: 72686250-72686250 on Build GRCh38
rs142820012 Chr.15: 72686284-72686284 on Build GRCh38
rs374945889 Chr.15: 72686178-72686178 on Build GRCh38
rs551863259 Chr.15: 72686175-72686175 on Build GRCh38
rs773109542 Chr.15: 72686228-72686228 on Build GRCh38
rs896358716 Chr.15: 72686179-72686179 on Build GRCh38
rs764265740 Chr.15: 72686260-72686260 on Build GRCh38
rs966748915 Chr.15: 72686204-72686204 on Build GRCh38
rs541286126 Chr.15: 72686123-72686123 on Build GRCh38
rs954863260 Chr.15: 72686233-72686233 on Build GRCh38
rs896298380 Chr.15: 72686289-72686289 on Build GRCh38
rs146238636 Chr.15: 72686214-72686214 on Build GRCh38
rs200947883 Chr.15: 72686191-72686191 on Build GRCh38
rs113994187 Chr.15: 72686245-72686245 on Build GRCh38
rs563626142 Chr.15: 72686295-72686295 on Build GRCh38
rs750157523 Chr.15: 72686131-72686131 on Build GRCh38
rs760505590 Chr.15: 72686238-72686238 on Build GRCh38
rs777667167 Chr.15: 72686277-72686277 on Build GRCh38
rs756703146 Chr.15: 72686278-72686278 on Build GRCh38
rs113994186 Chr.15: 72686247-72686247 on Build GRCh38
rs377301298 Chr.15: 72686267-72686267 on Build GRCh38
rs367543011 Chr.15: 72686222-72686222 on Build GRCh38
rs373861071 Chr.15: 72686258-72686258 on Build GRCh38
rs56368716 Chr.15: 72686211-72686211 on Build GRCh38
rs368789560 Chr.15: 72686269-72686269 on Build GRCh38
rs559733866 Chr.15: 72686129-72686129 on Build GRCh38
rs890713517 Chr.15: 72686184-72686184 on Build GRCh38
rs747743317 Chr.15: 72686220-72686220 on Build GRCh38
rs200055760 Chr.15: 72686259-72686259 on Build GRCh38
rs760667037 Chr.15: 72686175-72686175 on Build GRCh38
rs1001370900 Chr.15: 72686251-72686251 on Build GRCh38
rs753844067 Chr.15: 72686182-72686182 on Build GRCh38
rs923399180 Chr.15: 72686232-72686232 on Build GRCh38
rs138912724 Chr.15: 72686281-72686281 on Build GRCh38
rs886051465 Chr.15: 72686184-72686184 on Build GRCh38
rs927337209 Chr.15: 72686280-72686280 on Build GRCh38

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