Product Details

Primer Sequences
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Primer Chromosome Location
Chr.16: 56496800-56497315 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
BBS2
Entrez Gene ID
583
Gene Name
Bardet-Biedl syndrome 2
Gene Aliases
BBS, RP74
UniGene
Hs.333738
Gene Chromosome Location
Chr.16: 56470403-56520096 on Build GRCh38
Transcripts
NM_031885.3 XM_005256080.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6610138 c.1879G>A p.G627R Chr.16: 56496998-56496998 on Build GRCh38
1324394 c.1908C>T p.D636D Chr.16: 56496969-56496969 on Build GRCh38
971678 c.1865G>A p.R622Q Chr.16: 56497012-56497012 on Build GRCh38
1578636 c.1863C>G p.I621M Chr.16: 56497014-56497014 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs766839710 Chr.16: 56497110-56497110 on Build GRCh38
rs374344685 Chr.16: 56497090-56497090 on Build GRCh38
rs763256317 Chr.16: 56496956-56496956 on Build GRCh38
rs746505864 Chr.16: 56496992-56496992 on Build GRCh38
rs771822557 Chr.16: 56496986-56496986 on Build GRCh38
rs772255345 Chr.16: 56496918-56496919 on Build GRCh38
rs886581291 Chr.16: 56496896-56496896 on Build GRCh38
rs754227267 Chr.16: 56497112-56497112 on Build GRCh38
rs149473225 Chr.16: 56496998-56496998 on Build GRCh38
rs370273510 Chr.16: 56497087-56497087 on Build GRCh38
rs149327340 Chr.16: 56497191-56497191 on Build GRCh38
rs566712248 Chr.16: 56496890-56496890 on Build GRCh38
rs750950180 Chr.16: 56496971-56496971 on Build GRCh38
rs551891713 Chr.16: 56496849-56496849 on Build GRCh38
rs761451695 Chr.16: 56497133-56497136 on Build GRCh38
rs752749569 Chr.16: 56497069-56497069 on Build GRCh38
rs911981777 Chr.16: 56496832-56496832 on Build GRCh38
rs200021475 Chr.16: 56496983-56496983 on Build GRCh38
rs774612492 Chr.16: 56497074-56497074 on Build GRCh38
rs539147084 Chr.16: 56497147-56497147 on Build GRCh38
rs755451867 Chr.16: 56497127-56497127 on Build GRCh38
rs1056671149 Chr.16: 56497148-56497148 on Build GRCh38
rs572724629 Chr.16: 56497216-56497216 on Build GRCh38
rs201196733 Chr.16: 56497013-56497013 on Build GRCh38
rs1005070997 Chr.16: 56496899-56496899 on Build GRCh38
rs201444142 Chr.16: 56496984-56496984 on Build GRCh38
rs534200514 Chr.16: 56496907-56496907 on Build GRCh38
rs751604858 Chr.16: 56496958-56496958 on Build GRCh38
rs1012320741 Chr.16: 56496914-56496914 on Build GRCh38
rs376863578 Chr.16: 56497024-56497024 on Build GRCh38
rs930659537 Chr.16: 56497061-56497061 on Build GRCh38
rs138043021 Chr.16: 56496982-56496982 on Build GRCh38
rs759714501 Chr.16: 56497012-56497012 on Build GRCh38
rs201063733 Chr.16: 56497063-56497063 on Build GRCh38
rs777512522 Chr.16: 56497131-56497131 on Build GRCh38
rs781652557 Chr.16: 56496970-56496970 on Build GRCh38
rs777637214 Chr.16: 56496991-56496991 on Build GRCh38
rs556713242 Chr.16: 56497077-56497077 on Build GRCh38
rs753661845 Chr.16: 56497201-56497201 on Build GRCh38
rs1044848124 Chr.16: 56497215-56497215 on Build GRCh38
rs967941621 Chr.16: 56496968-56496968 on Build GRCh38
rs922185077 Chr.16: 56496867-56496867 on Build GRCh38
rs775431718 Chr.16: 56497041-56497047 on Build GRCh38
rs555264290 Chr.16: 56496999-56496999 on Build GRCh38
rs12103083 Chr.16: 56496939-56496939 on Build GRCh38
rs757391646 Chr.16: 56496966-56496966 on Build GRCh38
rs377755849 Chr.16: 56497104-56497104 on Build GRCh38
rs930920810 Chr.16: 56496877-56496877 on Build GRCh38
rs1056579778 Chr.16: 56496905-56496905 on Build GRCh38
rs2303282 Chr.16: 56497273-56497273 on Build GRCh38
rs752822439 Chr.16: 56496938-56496938 on Build GRCh38
rs921965548 Chr.16: 56497038-56497038 on Build GRCh38
rs80000990 Chr.16: 56496838-56496838 on Build GRCh38
rs886052145 Chr.16: 56496975-56496975 on Build GRCh38
rs763824183 Chr.16: 56497165-56497165 on Build GRCh38
rs750848830 Chr.16: 56497096-56497096 on Build GRCh38
rs1030888635 Chr.16: 56497264-56497264 on Build GRCh38
rs202230432 Chr.16: 56497036-56497036 on Build GRCh38
rs975131601 Chr.16: 56497037-56497037 on Build GRCh38
rs1000535436 Chr.16: 56497258-56497258 on Build GRCh38

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