Product Details

Primer Sequences

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Primer Chromosome Location

Chr.11: 47573022-47573291 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
927455	c.1244A>G	p.Y415C	Chr.11: 47573243-47573243 on Build GRCh38
254754	c.1404G>C	p.K468N	Chr.11: 47573083-47573083 on Build GRCh38
927454	c.1408G>A	p.A470T	Chr.11: 47573079-47573079 on Build GRCh38
4867892	c.1250A>G	p.Q417R	Chr.11: 47573285-47573285 on Build GRCh38
4872707	c.1254C>A	p.C418*	Chr.11: 47573281-47573281 on Build GRCh38
4192022	c.1511C>T	p.A504V	Chr.11: 47573024-47573024 on Build GRCh38
302454	c.1384T>G	p.S462A	Chr.11: 47573103-47573103 on Build GRCh38
927457	c.1202A>G	p.Q401R	Chr.11: 47573285-47573285 on Build GRCh38
927456	c.1206C>A	p.C402*	Chr.11: 47573281-47573281 on Build GRCh38
4865783	c.1456G>A	p.A486T	Chr.11: 47573079-47573079 on Build GRCh38
4515822	c.1293_1294GG>AT	p.V432L	Chr.11: 47573193-47573194 on Build GRCh38
4862739	c.1306G>T	p.A436S	Chr.11: 47573229-47573229 on Build GRCh38
927453	c.1438C>T	p.R480W	Chr.11: 47573049-47573049 on Build GRCh38
429069	c.1223A>G	p.D408G	Chr.11: 47573264-47573264 on Build GRCh38
4813751	c.1271A>G	p.D424G	Chr.11: 47573264-47573264 on Build GRCh38
3931323	c.1452G>C	p.K484N	Chr.11: 47573083-47573083 on Build GRCh38
687957	c.1258G>T	p.A420S	Chr.11: 47573229-47573229 on Build GRCh38
1746275	c.1464C>T	p.A488A	Chr.11: 47573023-47573023 on Build GRCh38
3931322	c.1512C>T	p.A504A	Chr.11: 47573023-47573023 on Build GRCh38
1604600	c.1315_1316insG	p.D439fs*20	Chr.11: 47573171-47573172 on Build GRCh38
5510505	c.1242C>A	p.P414P	Chr.11: 47573245-47573245 on Build GRCh38
5510504	c.1290C>A	p.P430P	Chr.11: 47573245-47573245 on Build GRCh38
4810268	c.1245C>T	p.L415L	Chr.11: 47573290-47573290 on Build GRCh38
161835	c.1197C>T	p.L399L	Chr.11: 47573290-47573290 on Build GRCh38
5632277	c.1273G>C	p.A425P	Chr.11: 47573214-47573214 on Build GRCh38
5632276	c.1321G>C	p.A441P	Chr.11: 47573214-47573214 on Build GRCh38
4782963	c.1313G>A	p.R438H	Chr.11: 47573222-47573222 on Build GRCh38
4782815	c.1486C>T	p.R496W	Chr.11: 47573049-47573049 on Build GRCh38
4515821	c.1341_1342GG>AT	p.V448L	Chr.11: 47573193-47573194 on Build GRCh38
1354098	c.1265G>A	p.R422H	Chr.11: 47573222-47573222 on Build GRCh38
1354097	c.1463C>T	p.A488V	Chr.11: 47573024-47573024 on Build GRCh38
3397722	c.1487G>C	p.R496P	Chr.11: 47573048-47573048 on Build GRCh38
5140599	c.1266_1267delGA	p.E422fs*23	Chr.11: 47573268-47573269 on Build GRCh38
1354099	c.1218_1219delGA	p.E406fs*23	Chr.11: 47573268-47573269 on Build GRCh38
4873205	c.1292A>G	p.Y431C	Chr.11: 47573243-47573243 on Build GRCh38
116987	c.1372G>C	p.E458Q	Chr.11: 47573115-47573115 on Build GRCh38
3397723	c.1439G>C	p.R480P	Chr.11: 47573048-47573048 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs754909672	Chr.11: 47573265-47573265 on Build GRCh38
rs766367041	Chr.11: 47573243-47573243 on Build GRCh38
rs1001981342	Chr.11: 47573244-47573244 on Build GRCh38
rs937649487	Chr.11: 47573063-47573063 on Build GRCh38
rs775934302	Chr.11: 47573094-47573094 on Build GRCh38
rs558994168	Chr.11: 47573222-47573222 on Build GRCh38
rs753594386	Chr.11: 47573105-47573105 on Build GRCh38
rs897496370	Chr.11: 47573131-47573131 on Build GRCh38
rs779958294	Chr.11: 47573048-47573048 on Build GRCh38
rs180799402	Chr.11: 47573185-47573185 on Build GRCh38
rs926394120	Chr.11: 47573061-47573061 on Build GRCh38
rs781565952	Chr.11: 47573109-47573125 on Build GRCh38
rs888010650	Chr.11: 47573068-47573068 on Build GRCh38
rs777822290	Chr.11: 47573067-47573067 on Build GRCh38
rs771044336	Chr.11: 47573080-47573080 on Build GRCh38
rs140618424	Chr.11: 47573079-47573079 on Build GRCh38
rs573433525	Chr.11: 47573130-47573130 on Build GRCh38
rs779018703	Chr.11: 47573194-47573194 on Build GRCh38
rs145669679	Chr.11: 47573173-47573173 on Build GRCh38
rs760881188	Chr.11: 47573099-47573099 on Build GRCh38
rs772442324	Chr.11: 47573093-47573093 on Build GRCh38
rs746726124	Chr.11: 47573049-47573049 on Build GRCh38
rs200689934	Chr.11: 47573081-47573081 on Build GRCh38
rs758372593	Chr.11: 47573149-47573149 on Build GRCh38
rs146486534	Chr.11: 47573215-47573215 on Build GRCh38
rs745888062	Chr.11: 47573195-47573195 on Build GRCh38
rs780938950	Chr.11: 47573175-47573175 on Build GRCh38
rs764926642	Chr.11: 47573235-47573235 on Build GRCh38
rs754683732	Chr.11: 47573174-47573174 on Build GRCh38
rs749395535	Chr.11: 47573077-47573077 on Build GRCh38
rs751505119	Chr.11: 47573254-47573254 on Build GRCh38
rs772635290	Chr.11: 47573207-47573207 on Build GRCh38
rs750736978	Chr.11: 47573240-47573241 on Build GRCh38
rs200102394	Chr.11: 47573163-47573163 on Build GRCh38
rs770062216	Chr.11: 47573057-47573057 on Build GRCh38
rs541644716	Chr.11: 47573092-47573092 on Build GRCh38
rs942278259	Chr.11: 47573074-47573074 on Build GRCh38
rs199567761	Chr.11: 47573241-47573241 on Build GRCh38
rs768943581	Chr.11: 47573214-47573214 on Build GRCh38
rs771134541	Chr.11: 47573187-47573187 on Build GRCh38
rs764908495	Chr.11: 47573140-47573140 on Build GRCh38
rs763838623	Chr.11: 47573104-47573104 on Build GRCh38
rs749941524	Chr.11: 47573146-47573146 on Build GRCh38
rs761122474	Chr.11: 47573210-47573210 on Build GRCh38
rs149097832	Chr.11: 47573236-47573236 on Build GRCh38

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