Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 178450152-178450648 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

DFNB59

Entrez Gene ID

494513

Gene Name

deafness, autosomal recessive 59

Gene Aliases

PJVK

UniGene

Hs.87734

Gene Chromosome Location

Chr.2: 178450592-178461390 on Build GRCh38

Transcripts

XM_011511251.1 NM_001139517.1 NM_001139518.1 NM_001316362.1 NM_003690.4 XM_011512063.1 XM_011512066.1 XM_017005159.1

Gene Symbol

PRKRA

Entrez Gene ID

8575

Gene Name

protein activator of interferon induced protein kinase EIF2AK2

Gene Aliases

DYT16, HSD14, PACT, RAX

UniGene

Hs.570274

Gene Chromosome Location

Chr.2: 178431414-178451240 on Build GRCh38

Transcripts

XM_011511251.1 NM_001139517.1 NM_001139518.1 NM_001316362.1 NM_003690.4 XM_011512063.1 XM_011512066.1 XM_017005159.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6155413	c.52G>A	p.A18T	Chr.2: 178450392-178450392 on Build GRCh38
3757789	c.173A>G	p.D58G	Chr.2: 178450304-178450304 on Build GRCh38
6155415	c.72G>A	p.P24P	Chr.2: 178450372-178450372 on Build GRCh38
6155414	c.105G>A	p.P35P	Chr.2: 178450372-178450372 on Build GRCh38
6282143	c.182T>A	p.V61D	Chr.2: 178450262-178450262 on Build GRCh38
1263114	c.170C>G	p.S57C	Chr.2: 178450307-178450307 on Build GRCh38
4948626	c.58C>T	p.P20S	Chr.2: 178450386-178450386 on Build GRCh38
6155412	c.85G>A	p.A29T	Chr.2: 178450392-178450392 on Build GRCh38
6338285	c.145C>T	p.Q49*	Chr.2: 178450299-178450299 on Build GRCh38
4799058	c.7A>G	p.S3G	Chr.2: 178450437-178450437 on Build GRCh38
5667118	c.154T>C	p.Y52H	Chr.2: 178450323-178450323 on Build GRCh38
7385596	c.44T>A	p.M15K	Chr.2: 178450400-178450400 on Build GRCh38
7385592	c.74A>C	p.K25T	Chr.2: 178450403-178450403 on Build GRCh38
5573005	c.235+2T>C	p.?	Chr.2: 178450240-178450240 on Build GRCh38
7385593	c.41A>C	p.K14T	Chr.2: 178450403-178450403 on Build GRCh38
5903422	c.76C>T	p.Q26*	Chr.2: 178450368-178450368 on Build GRCh38
5636101	c.66-10G>T	p.?	Chr.2: 178450421-178450421 on Build GRCh38
5903421	c.109C>T	p.Q37*	Chr.2: 178450368-178450368 on Build GRCh38
3709090	c.120C>G	p.H40Q	Chr.2: 178450357-178450357 on Build GRCh38
7089974	c.66-4G>T	p.?	Chr.2: 178450415-178450415 on Build GRCh38
4768751	c.230G>T	p.C77F	Chr.2: 178450247-178450247 on Build GRCh38
5573006	c.202+2T>C	p.?	Chr.2: 178450240-178450240 on Build GRCh38
5667119	c.121T>C	p.Y41H	Chr.2: 178450323-178450323 on Build GRCh38
5636102	c.23G>T	p.G8V	Chr.2: 178450421-178450421 on Build GRCh38
7385591	c.154G>C	p.V52L	Chr.2: 178450290-178450290 on Build GRCh38
2895325	c.187G>C	p.V63L	Chr.2: 178450290-178450290 on Build GRCh38
717567	c.121G>T	p.E41*	Chr.2: 178450356-178450356 on Build GRCh38
2895335	c.77T>A	p.M26K	Chr.2: 178450400-178450400 on Build GRCh38
5829326	c.140A>G	p.D47G	Chr.2: 178450304-178450304 on Build GRCh38
6338284	c.178C>T	p.Q60*	Chr.2: 178450299-178450299 on Build GRCh38
6282142	c.215T>A	p.V72D	Chr.2: 178450262-178450262 on Build GRCh38
1401546	c.91C>T	p.P31S	Chr.2: 178450386-178450386 on Build GRCh38
1613751	c.126C>A	p.Y42*	Chr.2: 178450351-178450351 on Build GRCh38
7089975	c.29G>T	p.C10F	Chr.2: 178450415-178450415 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs865896249	Chr.2: 178450519-178450519 on Build GRCh38
rs748210228	Chr.2: 178450453-178450453 on Build GRCh38
rs1049654908	Chr.2: 178450582-178450582 on Build GRCh38
rs777378640	Chr.2: 178450411-178450411 on Build GRCh38
rs547361364	Chr.2: 178450203-178450203 on Build GRCh38
rs866097444	Chr.2: 178450415-178450415 on Build GRCh38
rs534850994	Chr.2: 178450546-178450546 on Build GRCh38
rs1052334939	Chr.2: 178450536-178450536 on Build GRCh38
rs189979808	Chr.2: 178450244-178450244 on Build GRCh38
rs769066475	Chr.2: 178450438-178450438 on Build GRCh38
rs906895158	Chr.2: 178450585-178450585 on Build GRCh38
rs371966651	Chr.2: 178450359-178450359 on Build GRCh38
rs539630421	Chr.2: 178450274-178450274 on Build GRCh38
rs557708165	Chr.2: 178450599-178450599 on Build GRCh38
rs965736170	Chr.2: 178450443-178450443 on Build GRCh38
rs979648365	Chr.2: 178450473-178450473 on Build GRCh38
rs773563391	Chr.2: 178450457-178450457 on Build GRCh38
rs765067804	Chr.2: 178450195-178450195 on Build GRCh38
rs548939329	Chr.2: 178450464-178450464 on Build GRCh38
rs1001633991	Chr.2: 178450572-178450572 on Build GRCh38
rs557598648	Chr.2: 178450433-178450433 on Build GRCh38
rs930764800	Chr.2: 178450558-178450558 on Build GRCh38
rs778039061	Chr.2: 178450188-178450201 on Build GRCh38
rs772423771	Chr.2: 178450430-178450430 on Build GRCh38
rs986066745	Chr.2: 178450381-178450381 on Build GRCh38
rs753131558	Chr.2: 178450231-178450231 on Build GRCh38
rs867139205	Chr.2: 178450243-178450244 on Build GRCh38
rs780703241	Chr.2: 178450397-178450397 on Build GRCh38
rs1046329065	Chr.2: 178450625-178450625 on Build GRCh38
rs142526452	Chr.2: 178450562-178450562 on Build GRCh38
rs751447432	Chr.2: 178450372-178450372 on Build GRCh38
rs950076765	Chr.2: 178450541-178450541 on Build GRCh38
rs755656753	Chr.2: 178450400-178450400 on Build GRCh38
rs537707333	Chr.2: 178450581-178450581 on Build GRCh38
rs578077376	Chr.2: 178450563-178450563 on Build GRCh38
rs779206948	Chr.2: 178450270-178450270 on Build GRCh38
rs750714380	Chr.2: 178450360-178450360 on Build GRCh38
rs61999302	Chr.2: 178450304-178450304 on Build GRCh38
rs911912217	Chr.2: 178450440-178450440 on Build GRCh38
rs887991917	Chr.2: 178450592-178450592 on Build GRCh38
rs919427982	Chr.2: 178450539-178450539 on Build GRCh38
rs372175552	Chr.2: 178450486-178450487 on Build GRCh38
rs774037263	Chr.2: 178450471-178450471 on Build GRCh38
rs368860883	Chr.2: 178450450-178450450 on Build GRCh38
rs751509199	Chr.2: 178450215-178450215 on Build GRCh38
rs766343952	Chr.2: 178450369-178450369 on Build GRCh38
rs752176910	Chr.2: 178450398-178450398 on Build GRCh38
rs913220414	Chr.2: 178450538-178450538 on Build GRCh38
rs375307696	Chr.2: 178450421-178450421 on Build GRCh38
rs1045405791	Chr.2: 178450577-178450577 on Build GRCh38
rs772470217	Chr.2: 178450291-178450291 on Build GRCh38
rs867866520	Chr.2: 178450217-178450217 on Build GRCh38
rs776733670	Chr.2: 178450447-178450447 on Build GRCh38
rs768718101	Chr.2: 178450316-178450316 on Build GRCh38
rs770050266	Chr.2: 178450456-178450456 on Build GRCh38
rs535247514	Chr.2: 178450427-178450427 on Build GRCh38
rs763270183	Chr.2: 178450458-178450458 on Build GRCh38
rs935278148	Chr.2: 178450219-178450219 on Build GRCh38
rs780109487	Chr.2: 178450206-178450206 on Build GRCh38
rs775966438	Chr.2: 178450297-178450297 on Build GRCh38
rs925150036	Chr.2: 178450518-178450518 on Build GRCh38
rs549677714	Chr.2: 178450363-178450363 on Build GRCh38
rs572907267	Chr.2: 178450531-178450531 on Build GRCh38
rs764047755	Chr.2: 178450413-178450414 on Build GRCh38
rs754883832	Chr.2: 178450378-178450378 on Build GRCh38
rs765855887	Chr.2: 178450415-178450416 on Build GRCh38
rs1005141587	Chr.2: 178450403-178450403 on Build GRCh38
rs200794293	Chr.2: 178450371-178450371 on Build GRCh38
rs966302794	Chr.2: 178450476-178450476 on Build GRCh38
rs776589927	Chr.2: 178450332-178450332 on Build GRCh38
rs62176111	Chr.2: 178450222-178450222 on Build GRCh38
rs948468808	Chr.2: 178450575-178450575 on Build GRCh38
rs761948661	Chr.2: 178450193-178450193 on Build GRCh38
rs762048114	Chr.2: 178450357-178450357 on Build GRCh38
rs915634073	Chr.2: 178450566-178450566 on Build GRCh38
rs201536518	Chr.2: 178450205-178450205 on Build GRCh38

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