Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 122742397-122742634 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
BBS12
Entrez Gene ID
166379
Gene Name
Bardet-Biedl syndrome 12
Gene Aliases
C4orf24
UniGene
Hs.400698
Gene Chromosome Location
Chr.4: 122700437-122744943 on Build GRCh38
Transcripts
NM_001178007.1 NM_152618.2 XM_011531680.2 XM_017007831.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5601088 c.580C>T p.L194F Chr.4: 122742472-122742472 on Build GRCh38
6166073 c.698A>T p.H233L Chr.4: 122742590-122742590 on Build GRCh38
5995386 c.677G>A p.C226Y Chr.4: 122742569-122742569 on Build GRCh38
1131281 c.697C>A p.H233N Chr.4: 122742589-122742589 on Build GRCh38
6272164 c.616G>T p.V206F Chr.4: 122742508-122742508 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs746512004 Chr.4: 122742550-122742550 on Build GRCh38
rs17854892 Chr.4: 122742476-122742476 on Build GRCh38
rs765425168 Chr.4: 122742434-122742434 on Build GRCh38
rs78174492 Chr.4: 122742545-122742545 on Build GRCh38
rs761637119 Chr.4: 122742427-122742427 on Build GRCh38
rs994493028 Chr.4: 122742463-122742463 on Build GRCh38
rs773424078 Chr.4: 122742581-122742581 on Build GRCh38
rs753055427 Chr.4: 122742484-122742484 on Build GRCh38
rs749052488 Chr.4: 122742470-122742471 on Build GRCh38
rs756455122 Chr.4: 122742497-122742497 on Build GRCh38
rs771722309 Chr.4: 122742535-122742535 on Build GRCh38
rs770872200 Chr.4: 122742574-122742575 on Build GRCh38
rs752069628 Chr.4: 122742474-122742474 on Build GRCh38
rs755507052 Chr.4: 122742478-122742478 on Build GRCh38
rs547411582 Chr.4: 122742481-122742481 on Build GRCh38
rs56375540 Chr.4: 122742501-122742501 on Build GRCh38
rs371078705 Chr.4: 122742545-122742546 on Build GRCh38
rs751682549 Chr.4: 122742600-122742600 on Build GRCh38
rs375196236 Chr.4: 122742549-122742549 on Build GRCh38
rs373704680 Chr.4: 122742541-122742541 on Build GRCh38
rs1017676146 Chr.4: 122742461-122742461 on Build GRCh38
rs776606785 Chr.4: 122742563-122742563 on Build GRCh38
rs769588983 Chr.4: 122742574-122742574 on Build GRCh38
rs928199736 Chr.4: 122742533-122742533 on Build GRCh38
rs879118135 Chr.4: 122742542-122742543 on Build GRCh38
rs17006082 Chr.4: 122742606-122742606 on Build GRCh38
rs200300023 Chr.4: 122742472-122742472 on Build GRCh38
rs745448288 Chr.4: 122742532-122742532 on Build GRCh38
rs372032086 Chr.4: 122742523-122742523 on Build GRCh38
rs538701120 Chr.4: 122742467-122742467 on Build GRCh38
rs142330664 Chr.4: 122742439-122742439 on Build GRCh38
rs761533629 Chr.4: 122742568-122742568 on Build GRCh38
rs751639360 Chr.4: 122742592-122742592 on Build GRCh38
rs781704386 Chr.4: 122742479-122742479 on Build GRCh38
rs763099028 Chr.4: 122742586-122742586 on Build GRCh38
rs768514500 Chr.4: 122742552-122742552 on Build GRCh38

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