Product Details

Primer Sequences
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Primer Chromosome Location
Chr.7: 33257039-33257292 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
BBS9
Entrez Gene ID
27241
Gene Name
Bardet-Biedl syndrome 9
Gene Aliases
B1, C18, D1, PTHB1
UniGene
Hs.372360
Gene Chromosome Location
Chr.7: 33129244-33637238 on Build GRCh38
Transcripts
NM_001033604.1 NM_001033605.1 NM_014451.3 NM_198428.2 XM_005249700.3 XM_005249701.2 XM_011515264.2 XM_011515265.2 XM_011515266.2 XM_011515267.2 XM_011515268.1 XM_011515269.2 XM_011515270.2 XM_017011990.1 XM_017011991.1 XM_017011992.1 XM_017011993.1 XM_017011994.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6298743 c.486G>T p.M162I Chr.7: 33257279-33257279 on Build GRCh38
1635286 c.481C>A p.L161M Chr.7: 33257274-33257274 on Build GRCh38
3638195 c.481C>T p.L161L Chr.7: 33257274-33257274 on Build GRCh38
6536208 c.445C>G p.R149G Chr.7: 33257238-33257238 on Build GRCh38
6610173 c.477G>T p.G159G Chr.7: 33257270-33257270 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs773429307 Chr.7: 33257089-33257089 on Build GRCh38
rs967116605 Chr.7: 33257184-33257184 on Build GRCh38
rs1019981051 Chr.7: 33257183-33257185 on Build GRCh38
rs549755466 Chr.7: 33257105-33257105 on Build GRCh38
rs746759544 Chr.7: 33257209-33257209 on Build GRCh38
rs551682295 Chr.7: 33257150-33257150 on Build GRCh38
rs766695425 Chr.7: 33257268-33257268 on Build GRCh38
rs748755825 Chr.7: 33257254-33257254 on Build GRCh38
rs772575725 Chr.7: 33257261-33257261 on Build GRCh38
rs188223164 Chr.7: 33257135-33257135 on Build GRCh38
rs571583287 Chr.7: 33257185-33257190 on Build GRCh38
rs769592818 Chr.7: 33257242-33257242 on Build GRCh38
rs763332776 Chr.7: 33257106-33257106 on Build GRCh38
rs761234217 Chr.7: 33257267-33257267 on Build GRCh38
rs757114700 Chr.7: 33257234-33257234 on Build GRCh38
rs781174906 Chr.7: 33257238-33257238 on Build GRCh38
rs148763093 Chr.7: 33257262-33257262 on Build GRCh38
rs1025534163 Chr.7: 33257086-33257086 on Build GRCh38
rs777025093 Chr.7: 33257270-33257270 on Build GRCh38
rs775028319 Chr.7: 33257249-33257249 on Build GRCh38
rs983939540 Chr.7: 33257107-33257107 on Build GRCh38
rs745493067 Chr.7: 33257240-33257240 on Build GRCh38

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