Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.1: 196684957-196685182 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: CFH
Entrez Gene ID: 3075
Gene Name: complement factor H
Gene Aliases: AHUS1, AMBP1, ARMD4, ARMS1, CFHL3, FH, FHL1, HF, HF1, HF2, HUS
UniGene: Hs.363396
Gene Chromosome Location: Chr.1: 196651878-196747504 on Build GRCh38
Transcripts: NM_000186.3 NM_001014975.2 XM_017001108.1

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
3480793	c.838T>C	p.L280L	Chr.1: 196685111-196685111 on Build GRCh38
414225	c.800G>A	p.C267Y	Chr.1: 196685073-196685073 on Build GRCh38
4602271	c.872C>T	p.T291M	Chr.1: 196685145-196685145 on Build GRCh38
3480794	c.898C>T	p.P300S	Chr.1: 196685171-196685171 on Build GRCh38
5007000	c.898C>G	p.P300A	Chr.1: 196685171-196685171 on Build GRCh38
5907129	c.808C>T	p.P270S	Chr.1: 196685081-196685081 on Build GRCh38
5352974	c.857C>T	p.T286I	Chr.1: 196685130-196685130 on Build GRCh38
1626715	c.841A>T	p.R281W	Chr.1: 196685114-196685114 on Build GRCh38
2124766	c.871A>T	p.T291S	Chr.1: 196685144-196685144 on Build GRCh38
4559367	c.802G>A	p.D268N	Chr.1: 196685075-196685075 on Build GRCh38
2124767	c.873G>A	p.T291T	Chr.1: 196685146-196685146 on Build GRCh38
6060120	c.890G>T	p.G297V	Chr.1: 196685163-196685163 on Build GRCh38
1248140	c.837T>G	p.P279P	Chr.1: 196685110-196685110 on Build GRCh38
6060121	c.863A>C	p.D288A	Chr.1: 196685136-196685136 on Build GRCh38
3480792	c.817C>A	p.P273T	Chr.1: 196685090-196685090 on Build GRCh38
5646158	c.884G>C	p.R295T	Chr.1: 196685157-196685157 on Build GRCh38
5379003	c.904A>G	p.T302A	Chr.1: 196685177-196685177 on Build GRCh38
6627488	c.842G>T	p.R281M	Chr.1: 196685115-196685115 on Build GRCh38
4026511	c.796T>C	p.S266P	Chr.1: 196685069-196685069 on Build GRCh38
1320610	c.811T>C	p.Y271H	Chr.1: 196685084-196685084 on Build GRCh38
6215480	c.808C>G	p.P270A	Chr.1: 196685081-196685081 on Build GRCh38
6052954	c.883A>G	p.R295G	Chr.1: 196685156-196685156 on Build GRCh38
5928023	c.889G>A	p.G297S	Chr.1: 196685162-196685162 on Build GRCh38
4671846	c.827A>G	p.D276G	Chr.1: 196685100-196685100 on Build GRCh38
5528590	c.843G>A	p.R281R	Chr.1: 196685116-196685116 on Build GRCh38
1473198	c.865G>A	p.E289K	Chr.1: 196685138-196685138 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs373498827	Chr.1: 196685022-196685022 on Build GRCh38
rs781344392	Chr.1: 196685085-196685085 on Build GRCh38
rs759235964	Chr.1: 196685043-196685043 on Build GRCh38
rs760491520	Chr.1: 196685025-196685025 on Build GRCh38
rs753464350	Chr.1: 196685145-196685145 on Build GRCh38
rs776275476	Chr.1: 196685140-196685140 on Build GRCh38
rs977255062	Chr.1: 196685130-196685130 on Build GRCh38
rs769615121	Chr.1: 196685152-196685152 on Build GRCh38
rs747978553	Chr.1: 196685120-196685120 on Build GRCh38
rs757654697	Chr.1: 196685080-196685080 on Build GRCh38
rs770499656	Chr.1: 196685029-196685029 on Build GRCh38
rs967645162	Chr.1: 196685089-196685089 on Build GRCh38
rs377743610	Chr.1: 196685044-196685044 on Build GRCh38
rs773171798	Chr.1: 196685023-196685023 on Build GRCh38
rs756394847	Chr.1: 196685095-196685095 on Build GRCh38
rs375672227	Chr.1: 196685019-196685019 on Build GRCh38
rs770711656	Chr.1: 196685137-196685137 on Build GRCh38
rs750402591	Chr.1: 196685086-196685086 on Build GRCh38
rs771886590	Chr.1: 196685122-196685122 on Build GRCh38
rs777385499	Chr.1: 196685129-196685129 on Build GRCh38
rs745354417	Chr.1: 196685146-196685146 on Build GRCh38
rs751340339	Chr.1: 196685085-196685085 on Build GRCh38
rs537533385	Chr.1: 196685060-196685060 on Build GRCh38
rs756719477	Chr.1: 196685157-196685157 on Build GRCh38
rs746982840	Chr.1: 196685131-196685131 on Build GRCh38
rs752136176	Chr.1: 196685072-196685072 on Build GRCh38
rs762651612	Chr.1: 196685161-196685161 on Build GRCh38
rs764573258	Chr.1: 196685162-196685162 on Build GRCh38
rs113017909	Chr.1: 196685077-196685077 on Build GRCh38
rs191031067	Chr.1: 196685020-196685020 on Build GRCh38
rs775249868	Chr.1: 196685158-196685158 on Build GRCh38
rs764736384	Chr.1: 196685070-196685070 on Build GRCh38
rs746122005	Chr.1: 196685013-196685013 on Build GRCh38
rs555272410	Chr.1: 196684987-196684987 on Build GRCh38
rs759463976	Chr.1: 196685028-196685029 on Build GRCh38
rs372082440	Chr.1: 196685017-196685017 on Build GRCh38
rs753167331	Chr.1: 196685046-196685046 on Build GRCh38
rs780233617	Chr.1: 196685114-196685114 on Build GRCh38
rs775948824	Chr.1: 196685040-196685040 on Build GRCh38
rs951425681	Chr.1: 196685139-196685139 on Build GRCh38

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