Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 66511010-66511267 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
BBS1
Entrez Gene ID
582
Gene Name
Bardet-Biedl syndrome 1
Gene Aliases
BBS2L2
UniGene
Hs.502915
Gene Chromosome Location
Chr.11: 66510648-66533613 on Build GRCh38
Transcripts
NM_024649.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4787885 c.52G>A p.E18K Chr.11: 66511017-66511017 on Build GRCh38
6487973 c.259G>A p.G87R Chr.11: 66511228-66511228 on Build GRCh38
7357321 c.133G>C p.D45H Chr.11: 66511213-66511213 on Build GRCh38
930769 c.77C>T p.A26V Chr.11: 66511042-66511042 on Build GRCh38
5815673 c.202A>T p.M68L Chr.11: 66511056-66511056 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs912081756 Chr.11: 66511088-66511088 on Build GRCh38
rs962623435 Chr.11: 66511160-66511160 on Build GRCh38
rs759208852 Chr.11: 66511196-66511196 on Build GRCh38
rs767624328 Chr.11: 66511110-66511110 on Build GRCh38
rs201026878 Chr.11: 66511056-66511056 on Build GRCh38
rs762092708 Chr.11: 66511194-66511194 on Build GRCh38
rs770452423 Chr.11: 66511055-66511055 on Build GRCh38
rs746659411 Chr.11: 66511130-66511130 on Build GRCh38
rs751779071 Chr.11: 66511102-66511102 on Build GRCh38
rs772010847 Chr.11: 66511040-66511040 on Build GRCh38
rs756273063 Chr.11: 66511113-66511113 on Build GRCh38
rs374066086 Chr.11: 66511099-66511099 on Build GRCh38
rs776061360 Chr.11: 66511061-66511061 on Build GRCh38
rs760939609 Chr.11: 66511137-66511138 on Build GRCh38
rs866558676 Chr.11: 66511042-66511042 on Build GRCh38
rs778261474 Chr.11: 66511066-66511066 on Build GRCh38
rs1057516449 Chr.11: 66511090-66511090 on Build GRCh38
rs747891096 Chr.11: 66511035-66511035 on Build GRCh38
rs78913093 Chr.11: 66511054-66511054 on Build GRCh38
rs543797671 Chr.11: 66511143-66511143 on Build GRCh38
rs925718222 Chr.11: 66511202-66511202 on Build GRCh38
rs775990952 Chr.11: 66511069-66511069 on Build GRCh38
rs766602837 Chr.11: 66511237-66511237 on Build GRCh38
rs752658686 Chr.11: 66511238-66511238 on Build GRCh38
rs368510687 Chr.11: 66511053-66511053 on Build GRCh38
rs771560964 Chr.11: 66511049-66511049 on Build GRCh38
rs554294689 Chr.11: 66511149-66511149 on Build GRCh38
rs760793954 Chr.11: 66511232-66511232 on Build GRCh38
rs367682811 Chr.11: 66511213-66511213 on Build GRCh38
rs975741601 Chr.11: 66511182-66511182 on Build GRCh38
rs773503074 Chr.11: 66511222-66511222 on Build GRCh38
rs770554491 Chr.11: 66511132-66511132 on Build GRCh38
rs190639799 Chr.11: 66511191-66511191 on Build GRCh38
rs761993639 Chr.11: 66511108-66511108 on Build GRCh38
rs370608923 Chr.11: 66511076-66511076 on Build GRCh38
rs760081811 Chr.11: 66511067-66511067 on Build GRCh38
rs749835624 Chr.11: 66511179-66511179 on Build GRCh38
rs367922723 Chr.11: 66511169-66511169 on Build GRCh38
rs922934188 Chr.11: 66511220-66511220 on Build GRCh38
rs777478641 Chr.11: 66511124-66511124 on Build GRCh38
rs775937558 Chr.11: 66511171-66511171 on Build GRCh38
rs745326262 Chr.11: 66511140-66511140 on Build GRCh38
rs780899721 Chr.11: 66511133-66511133 on Build GRCh38
rs758232535 Chr.11: 66511123-66511123 on Build GRCh38
rs752709606 Chr.11: 66511122-66511122 on Build GRCh38
rs776909699 Chr.11: 66511107-66511107 on Build GRCh38
rs1057516507 Chr.11: 66511241-66511241 on Build GRCh38
rs778942389 Chr.11: 66511114-66511114 on Build GRCh38
rs768991460 Chr.11: 66511188-66511188 on Build GRCh38
rs778850233 Chr.11: 66511033-66511033 on Build GRCh38

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