Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.6: 18121827-18122052 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: NHLRC1
Entrez Gene ID: 378884
Gene Name: NHL repeat containing E3 ubiquitin protein ligase 1
Gene Aliases: EPM2A, EPM2B, MALIN, bA204B7.2
UniGene: Hs.348351
Gene Chromosome Location: Chr.6: 18120487-18122620 on Build GRCh38
Transcripts: NM_198586.2

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
1696951	c.673C>T	p.P225S	Chr.6: 18121934-18121934 on Build GRCh38
4506572	c.723C>T	p.L241L	Chr.6: 18121884-18121884 on Build GRCh38
1739213	c.586C>T	p.R196C	Chr.6: 18122021-18122021 on Build GRCh38
226575	c.625C>T	p.L209F	Chr.6: 18121982-18121982 on Build GRCh38
6007204	c.707C>T	p.A236V	Chr.6: 18121900-18121900 on Build GRCh38
6193201	c.733G>A	p.D245N	Chr.6: 18121874-18121874 on Build GRCh38
420969	c.664G>C	p.E222Q	Chr.6: 18121943-18121943 on Build GRCh38
6226883	c.580G>A	p.G194S	Chr.6: 18122027-18122027 on Build GRCh38
307616	c.692T>A	p.V231E	Chr.6: 18121915-18121915 on Build GRCh38
317687	c.648C>T	p.S216S	Chr.6: 18121959-18121959 on Build GRCh38
4882029	c.703G>C	p.E235Q	Chr.6: 18121904-18121904 on Build GRCh38
6878036	c.640C>T	p.Q214*	Chr.6: 18121967-18121967 on Build GRCh38
2856209	c.664G>T	p.E222*	Chr.6: 18121943-18121943 on Build GRCh38
4706838	c.741G>A	p.A247A	Chr.6: 18121866-18121866 on Build GRCh38
297442	c.639C>A	p.G213G	Chr.6: 18121968-18121968 on Build GRCh38
1076365	c.678G>T	p.Q226H	Chr.6: 18121929-18121929 on Build GRCh38
3860659	c.755G>A	p.R252Q	Chr.6: 18121852-18121852 on Build GRCh38
3860660	c.738C>T	p.F246F	Chr.6: 18121869-18121869 on Build GRCh38
3410824	c.683G>A	p.G228E	Chr.6: 18121924-18121924 on Build GRCh38
5357322	c.674C>A	p.P225H	Chr.6: 18121933-18121933 on Build GRCh38
1076363	c.758G>T	p.R253I	Chr.6: 18121849-18121849 on Build GRCh38
1076364	c.745G>T	p.G249W	Chr.6: 18121862-18121862 on Build GRCh38
5455468	c.582C>T	p.G194G	Chr.6: 18122025-18122025 on Build GRCh38
1442413	c.612_613insT	p.G205fs*29	Chr.6: 18121994-18121995 on Build GRCh38
1442414	c.612delT	p.F204fs*28	Chr.6: 18121995-18121995 on Build GRCh38
1487497	c.584A>C	p.D195A	Chr.6: 18122023-18122023 on Build GRCh38
3860661	c.694A>G	p.T232A	Chr.6: 18121913-18121913 on Build GRCh38
1311836	c.763G>A	p.E255K	Chr.6: 18121844-18121844 on Build GRCh38
5758551	c.666G>T	p.E222D	Chr.6: 18121941-18121941 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs571973789	Chr.6: 18121866-18121866 on Build GRCh38
rs753591736	Chr.6: 18121964-18121964 on Build GRCh38
rs752724787	Chr.6: 18121982-18121982 on Build GRCh38
rs781332789	Chr.6: 18121998-18121998 on Build GRCh38
rs749939720	Chr.6: 18121931-18121931 on Build GRCh38
rs747276703	Chr.6: 18121894-18121894 on Build GRCh38
rs759875696	Chr.6: 18121910-18121910 on Build GRCh38
rs367649330	Chr.6: 18122023-18122023 on Build GRCh38
rs771126194	Chr.6: 18121906-18121906 on Build GRCh38
rs121917876	Chr.6: 18122014-18122014 on Build GRCh38
rs754016620	Chr.6: 18121993-18121993 on Build GRCh38
rs146420615	Chr.6: 18121878-18121878 on Build GRCh38
rs557680058	Chr.6: 18121984-18121984 on Build GRCh38
rs374108909	Chr.6: 18121944-18121944 on Build GRCh38
rs201058506	Chr.6: 18121995-18121995 on Build GRCh38
rs909160658	Chr.6: 18121946-18121946 on Build GRCh38
rs750055958	Chr.6: 18121865-18121865 on Build GRCh38
rs144861349	Chr.6: 18121953-18121953 on Build GRCh38
rs770214773	Chr.6: 18121911-18121911 on Build GRCh38
rs202217857	Chr.6: 18122028-18122028 on Build GRCh38
rs760472860	Chr.6: 18121941-18121941 on Build GRCh38
rs746239356	Chr.6: 18122008-18122008 on Build GRCh38
rs371640803	Chr.6: 18121912-18121912 on Build GRCh38
rs748203595	Chr.6: 18121884-18121884 on Build GRCh38
rs767300701	Chr.6: 18121861-18121861 on Build GRCh38
rs371072212	Chr.6: 18121852-18121852 on Build GRCh38
rs770156055	Chr.6: 18122020-18122020 on Build GRCh38
rs794726964	Chr.6: 18121943-18121943 on Build GRCh38
rs777043678	Chr.6: 18121907-18121907 on Build GRCh38
rs34551044	Chr.6: 18121891-18121892 on Build GRCh38
rs140850172	Chr.6: 18121926-18121926 on Build GRCh38
rs747084695	Chr.6: 18121989-18121989 on Build GRCh38
rs772155104	Chr.6: 18121886-18121886 on Build GRCh38
rs754756237	Chr.6: 18121965-18121965 on Build GRCh38
rs761259733	Chr.6: 18121923-18121923 on Build GRCh38
rs374327275	Chr.6: 18121856-18121856 on Build GRCh38
rs766829550	Chr.6: 18122021-18122022 on Build GRCh38
rs367906378	Chr.6: 18121867-18121867 on Build GRCh38
rs777885030	Chr.6: 18121986-18121986 on Build GRCh38

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