Product Details

Primer Sequences

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Primer Chromosome Location

Chr.11: 66514377-66514648 on Build GRCh38 View in UCSC browser

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

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Cosmic ID	Mutation	AA	Transcript Location
6637351	c.329C>A	p.P110H	Chr.11: 66514575-66514575 on Build GRCh38
147274	c.378G>A	p.L126L	Chr.11: 66514624-66514624 on Build GRCh38
5460413	c.511C>T	p.L171L	Chr.11: 66514646-66514646 on Build GRCh38
4665240	c.199C>T	p.R67C	Chr.11: 66514445-66514445 on Build GRCh38
4665241	c.310C>T	p.R104C	Chr.11: 66514445-66514445 on Build GRCh38
6610115	c.447C>T	p.V149V	Chr.11: 66514582-66514582 on Build GRCh38
3769415	c.380C>T	p.P127L	Chr.11: 66514626-66514626 on Build GRCh38
6637359	c.234C>T	p.T78T	Chr.11: 66514480-66514480 on Build GRCh38
467277	c.389C>T	p.P130L	Chr.11: 66514635-66514635 on Build GRCh38
6569363	c.315G>A	p.L105L	Chr.11: 66514450-66514450 on Build GRCh38
6637355	c.298C>T	p.R100W	Chr.11: 66514544-66514544 on Build GRCh38
5804357	c.338A>T	p.Y113F	Chr.11: 66514584-66514584 on Build GRCh38
5051055	c.369A>T	p.P123P	Chr.11: 66514504-66514504 on Build GRCh38
6287788	c.315G>T	p.L105L	Chr.11: 66514450-66514450 on Build GRCh38
2040333	c.460A>T	p.N154Y	Chr.11: 66514595-66514595 on Build GRCh38
5051054	c.258A>T	p.P86P	Chr.11: 66514504-66514504 on Build GRCh38
6610114	c.336C>T	p.V112V	Chr.11: 66514582-66514582 on Build GRCh38
7363191	c.443G>A	p.C148Y	Chr.11: 66514578-66514578 on Build GRCh38
5460412	c.400C>T	p.L134L	Chr.11: 66514646-66514646 on Build GRCh38
6569362	c.204G>A	p.L68L	Chr.11: 66514450-66514450 on Build GRCh38
6287787	c.204G>T	p.L68L	Chr.11: 66514450-66514450 on Build GRCh38
6134187	c.295C>T	p.P99S	Chr.11: 66514541-66514541 on Build GRCh38
6134188	c.406C>T	p.P136S	Chr.11: 66514541-66514541 on Build GRCh38
7083349	c.410G>A	p.R137Q	Chr.11: 66514545-66514545 on Build GRCh38
3998544	c.489G>A	p.L163L	Chr.11: 66514624-66514624 on Build GRCh38
6996334	c.391A>G	p.M131V	Chr.11: 66514526-66514526 on Build GRCh38
7363190	c.332G>A	p.C111Y	Chr.11: 66514578-66514578 on Build GRCh38
243176	c.368A>C	p.K123T	Chr.11: 66514614-66514614 on Build GRCh38
6069989	c.493C>T	p.Q165*	Chr.11: 66514628-66514628 on Build GRCh38
415803	c.299G>A	p.R100Q	Chr.11: 66514545-66514545 on Build GRCh38
2040332	c.349A>T	p.N117Y	Chr.11: 66514595-66514595 on Build GRCh38
6637356	c.409C>T	p.R137W	Chr.11: 66514544-66514544 on Build GRCh38
5804358	c.449A>T	p.Y150F	Chr.11: 66514584-66514584 on Build GRCh38
6637352	c.440C>A	p.P147H	Chr.11: 66514575-66514575 on Build GRCh38
3769416	c.491C>T	p.P164L	Chr.11: 66514626-66514626 on Build GRCh38
6996333	c.280A>G	p.M94V	Chr.11: 66514526-66514526 on Build GRCh38
6069988	c.382C>T	p.Q128*	Chr.11: 66514628-66514628 on Build GRCh38
6637360	c.345C>T	p.T115T	Chr.11: 66514480-66514480 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs766553514	Chr.11: 66514412-66514412 on Build GRCh38
rs369311781	Chr.11: 66514568-66514568 on Build GRCh38
rs747229370	Chr.11: 66514527-66514527 on Build GRCh38
rs575216386	Chr.11: 66514494-66514494 on Build GRCh38
rs11553180	Chr.11: 66514450-66514450 on Build GRCh38
rs150253659	Chr.11: 66514604-66514604 on Build GRCh38
rs765960634	Chr.11: 66514578-66514578 on Build GRCh38
rs750288768	Chr.11: 66514575-66514575 on Build GRCh38
rs748727758	Chr.11: 66514499-66514499 on Build GRCh38
rs748732460	Chr.11: 66514480-66514480 on Build GRCh38
rs113822005	Chr.11: 66514421-66514421 on Build GRCh38
rs1057516451	Chr.11: 66514469-66514470 on Build GRCh38
rs777005564	Chr.11: 66514536-66514536 on Build GRCh38
rs137853913	Chr.11: 66514562-66514562 on Build GRCh38
rs754412005	Chr.11: 66514585-66514585 on Build GRCh38
rs145718265	Chr.11: 66514446-66514446 on Build GRCh38
rs773271740	Chr.11: 66514408-66514408 on Build GRCh38
rs759486291	Chr.11: 66514541-66514541 on Build GRCh38
rs760469814	Chr.11: 66514576-66514576 on Build GRCh38
rs141429900	Chr.11: 66514489-66514489 on Build GRCh38
rs755090554	Chr.11: 66514430-66514430 on Build GRCh38
rs769949890	Chr.11: 66514544-66514544 on Build GRCh38
rs1057517007	Chr.11: 66514428-66514428 on Build GRCh38
rs1012901050	Chr.11: 66514463-66514463 on Build GRCh38
rs771209437	Chr.11: 66514528-66514528 on Build GRCh38
rs747317319	Chr.11: 66514620-66514620 on Build GRCh38
rs776917681	Chr.11: 66514418-66514418 on Build GRCh38
rs778339359	Chr.11: 66514520-66514520 on Build GRCh38
rs757307889	Chr.11: 66514545-66514545 on Build GRCh38
rs753517084	Chr.11: 66514584-66514584 on Build GRCh38
rs373756451	Chr.11: 66514606-66514606 on Build GRCh38
rs138744839	Chr.11: 66514481-66514481 on Build GRCh38
rs369843749	Chr.11: 66514436-66514436 on Build GRCh38
rs181765153	Chr.11: 66514409-66514409 on Build GRCh38
rs999363451	Chr.11: 66514427-66514427 on Build GRCh38
rs779539652	Chr.11: 66514470-66514470 on Build GRCh38
rs756964235	Chr.11: 66514439-66514439 on Build GRCh38
rs2298806	Chr.11: 66514624-66514624 on Build GRCh38
rs778530784	Chr.11: 66514592-66514592 on Build GRCh38
rs767385250	Chr.11: 66514445-66514445 on Build GRCh38
rs11553179	Chr.11: 66514431-66514431 on Build GRCh38
rs763878620	Chr.11: 66514430-66514430 on Build GRCh38
rs200423761	Chr.11: 66514517-66514517 on Build GRCh38
rs190513580	Chr.11: 66514603-66514603 on Build GRCh38
rs377037816	Chr.11: 66514476-66514476 on Build GRCh38
rs539223435	Chr.11: 66514461-66514461 on Build GRCh38

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