Product Details

Primer Sequences

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Primer Chromosome Location

Chr.11: 47573404-47573673 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

KBTBD4

Entrez Gene ID

55709

Gene Name

kelch repeat and BTB domain containing 4

Gene Aliases

BKLHD4, HSPC252

UniGene

Hs.718483

Gene Chromosome Location

Chr.11: 47572197-47579015 on Build GRCh38

Transcripts

NM_001318716.1 NM_001318717.1 NM_001318718.1 NM_001318719.1 NM_001318720.1 NM_001318721.1 NM_001318722.1 NM_001318723.1 NM_001318724.1 NM_001318725.1 NM_016506.6 NM_018095.5 XM_017018009.1 NM_001143984.1 NM_175732.2

Gene Symbol

PTPMT1

Entrez Gene ID

114971

Gene Name

protein tyrosine phosphatase, mitochondrial 1

Gene Aliases

DUSP23, MOSP, PLIP, PNAS-129

UniGene

Hs.656205

Gene Chromosome Location

Chr.11: 47565430-47573461 on Build GRCh38

Transcripts

NM_001318716.1 NM_001318717.1 NM_001318718.1 NM_001318719.1 NM_001318720.1 NM_001318721.1 NM_001318722.1 NM_001318723.1 NM_001318724.1 NM_001318725.1 NM_016506.6 NM_018095.5 XM_017018009.1 NM_001143984.1 NM_175732.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
4821334	c.856G>C	p.D286H	Chr.11: 47573631-47573631 on Build GRCh38
7416886	c.930G>A	p.W310*	Chr.11: 47573557-47573557 on Build GRCh38
4574404	c.981C>T	p.P327P	Chr.11: 47573506-47573506 on Build GRCh38
4866569	c.1103G>A	p.R368H	Chr.11: 47573432-47573432 on Build GRCh38
5955354	c.1049C>A	p.S350*	Chr.11: 47573486-47573486 on Build GRCh38
5813031	c.1050T>G	p.Y350*	Chr.11: 47573437-47573437 on Build GRCh38
5813030	c.1098T>G	p.Y366*	Chr.11: 47573437-47573437 on Build GRCh38
3931324	c.916G>A	p.V306M	Chr.11: 47573619-47573619 on Build GRCh38
5838670	c.886C>T	p.R296W	Chr.11: 47573601-47573601 on Build GRCh38
6690366	c.884C>T	p.A295V	Chr.11: 47573651-47573651 on Build GRCh38
5668973	c.912C>T	p.A304A	Chr.11: 47573575-47573575 on Build GRCh38
5668972	c.960C>T	p.A320A	Chr.11: 47573575-47573575 on Build GRCh38
1703878	c.947G>T	p.R316L	Chr.11: 47573540-47573540 on Build GRCh38
4821333	c.904G>C	p.D302H	Chr.11: 47573631-47573631 on Build GRCh38
3764304	c.928A>T	p.I310F	Chr.11: 47573607-47573607 on Build GRCh38
4033212	c.979C>T	p.P327S	Chr.11: 47573508-47573508 on Build GRCh38
6690367	c.836C>T	p.A279V	Chr.11: 47573651-47573651 on Build GRCh38
3447847	c.878C>T	p.S293F	Chr.11: 47573609-47573609 on Build GRCh38
4602117	c.999C>G	p.D333E	Chr.11: 47573536-47573536 on Build GRCh38
6201483	c.886_887insTACAAGTT	p.R296fs*61	Chr.11: 47573600-47573601 on Build GRCh38
6201466	c.929_930delTC	p.I310fs*13	Chr.11: 47573605-47573606 on Build GRCh38
4885719	c.932G>T	p.C311F	Chr.11: 47573555-47573555 on Build GRCh38
6201907	c.934_935insTACATGTT	p.R312fs*61	Chr.11: 47573600-47573601 on Build GRCh38
927460	c.1055G>A	p.R352H	Chr.11: 47573432-47573432 on Build GRCh38
254755	c.868G>A	p.V290M	Chr.11: 47573619-47573619 on Build GRCh38
6201192	c.888_889insCACGGC	p.R296_R297insHG	Chr.11: 47573598-47573599 on Build GRCh38
5955355	c.1001C>A	p.S334*	Chr.11: 47573486-47573486 on Build GRCh38
4033211	c.1027C>T	p.P343S	Chr.11: 47573508-47573508 on Build GRCh38
2151650	c.959_960delAG	p.Q320fs*35	Chr.11: 47573527-47573528 on Build GRCh38
7416885	c.978G>A	p.W326*	Chr.11: 47573557-47573557 on Build GRCh38
4602118	c.951C>G	p.D317E	Chr.11: 47573536-47573536 on Build GRCh38
5838669	c.934C>T	p.R312W	Chr.11: 47573601-47573601 on Build GRCh38
4861848	c.967G>T	p.D323Y	Chr.11: 47573568-47573568 on Build GRCh38
687956	c.919G>T	p.D307Y	Chr.11: 47573568-47573568 on Build GRCh38
5624191	c.995G>A	p.R332Q	Chr.11: 47573540-47573540 on Build GRCh38
5624192	c.947G>A	p.R316Q	Chr.11: 47573540-47573540 on Build GRCh38
4783231	c.950G>A	p.C317Y	Chr.11: 47573585-47573585 on Build GRCh38
3447846	c.926C>T	p.S309F	Chr.11: 47573609-47573609 on Build GRCh38
1354102	c.902G>A	p.C301Y	Chr.11: 47573585-47573585 on Build GRCh38
5475514	c.952C>T	p.R318W	Chr.11: 47573535-47573535 on Build GRCh38
5475513	c.1000C>T	p.R334W	Chr.11: 47573535-47573535 on Build GRCh38
5073865	c.1013A>C	p.K338T	Chr.11: 47573474-47573474 on Build GRCh38
5360571	c.1055G>A	p.G352D	Chr.11: 47573480-47573480 on Build GRCh38
5360572	c.1007G>A	p.G336D	Chr.11: 47573480-47573480 on Build GRCh38
4574403	c.1029C>T	p.P343P	Chr.11: 47573506-47573506 on Build GRCh38
4885718	c.980G>T	p.C327F	Chr.11: 47573555-47573555 on Build GRCh38
302455	c.888_889insGGG	p.R296_R297insG	Chr.11: 47573598-47573599 on Build GRCh38
6201191	c.936_937insCACGGC	p.R312_R313insHG	Chr.11: 47573598-47573599 on Build GRCh38
6201467	c.881_882delTC	p.I294fs*13	Chr.11: 47573605-47573606 on Build GRCh38
1285646	c.880A>T	p.I294F	Chr.11: 47573607-47573607 on Build GRCh38
6201482	c.934_935insTACAAGTT	p.R312fs*61	Chr.11: 47573600-47573601 on Build GRCh38
6201908	c.886_887insTACATGTT	p.R296fs*61	Chr.11: 47573600-47573601 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs748140900	Chr.11: 47573615-47573615 on Build GRCh38
rs768581356	Chr.11: 47573620-47573620 on Build GRCh38
rs909392785	Chr.11: 47573456-47573456 on Build GRCh38
rs765630705	Chr.11: 47573485-47573485 on Build GRCh38
rs139512073	Chr.11: 47573506-47573506 on Build GRCh38
rs753654999	Chr.11: 47573476-47573476 on Build GRCh38
rs776295137	Chr.11: 47573625-47573625 on Build GRCh38
rs773599306	Chr.11: 47573429-47573429 on Build GRCh38
rs781403257	Chr.11: 47573528-47573528 on Build GRCh38
rs1036617814	Chr.11: 47573505-47573505 on Build GRCh38
rs759804817	Chr.11: 47573651-47573651 on Build GRCh38
rs372051017	Chr.11: 47573650-47573650 on Build GRCh38
rs775355395	Chr.11: 47573449-47573449 on Build GRCh38
rs758741599	Chr.11: 47573537-47573537 on Build GRCh38
rs754116406	Chr.11: 47573448-47573448 on Build GRCh38
rs143529938	Chr.11: 47573431-47573431 on Build GRCh38
rs375208548	Chr.11: 47573509-47573509 on Build GRCh38
rs367925558	Chr.11: 47573632-47573632 on Build GRCh38
rs748955906	Chr.11: 47573430-47573430 on Build GRCh38
rs149622767	Chr.11: 47573530-47573530 on Build GRCh38
rs867676589	Chr.11: 47573460-47573460 on Build GRCh38
rs774949831	Chr.11: 47573597-47573597 on Build GRCh38
rs144325348	Chr.11: 47573579-47573579 on Build GRCh38
rs745403900	Chr.11: 47573582-47573582 on Build GRCh38
rs767776935	Chr.11: 47573652-47573652 on Build GRCh38
rs749606273	Chr.11: 47573540-47573540 on Build GRCh38
rs758977537	Chr.11: 47573434-47573434 on Build GRCh38
rs766534364	Chr.11: 47573641-47573641 on Build GRCh38
rs755063316	Chr.11: 47573511-47573511 on Build GRCh38
rs760663862	Chr.11: 47573598-47573598 on Build GRCh38
rs756681498	Chr.11: 47573533-47573533 on Build GRCh38
rs931437850	Chr.11: 47573541-47573541 on Build GRCh38
rs770492766	Chr.11: 47573572-47573572 on Build GRCh38
rs11039302	Chr.11: 47573499-47573499 on Build GRCh38
rs1046517505	Chr.11: 47573571-47573571 on Build GRCh38
rs767471949	Chr.11: 47573447-47573447 on Build GRCh38
rs760584018	Chr.11: 47573459-47573459 on Build GRCh38
rs773744022	Chr.11: 47573432-47573432 on Build GRCh38
rs147179417	Chr.11: 47573461-47573461 on Build GRCh38

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