Product Details

Primer Sequences

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Primer Chromosome Location

Chr.8: 54622025-54622537 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

RP1

Entrez Gene ID

6101

Gene Name

retinitis pigmentosa 1 (autosomal dominant)

Gene Aliases

DCDC4A, ORP1

UniGene

Hs.732820

Gene Chromosome Location

Chr.8: 54509448-54630834 on Build GRCh38

Transcripts

NM_006269.1 XM_017013721.1 XM_017013722.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1100537	c.690A>G	p.G230G	Chr.8: 54622191-54622191 on Build GRCh38
1700093	c.148C>T	p.P50S	Chr.8: 54622219-54622219 on Build GRCh38
3649766	c.760G>A	p.G254R	Chr.8: 54622261-54622261 on Build GRCh38
225260	c.761G>A	p.G254E	Chr.8: 54622262-54622262 on Build GRCh38
3663801	c.702C>A	p.I234I	Chr.8: 54622203-54622203 on Build GRCh38
1100533	c.663G>A	p.A221A	Chr.8: 54622164-54622164 on Build GRCh38
4408141	c.68T>C	p.I23T	Chr.8: 54622139-54622139 on Build GRCh38
3649758	c.673G>A	p.E225K	Chr.8: 54622174-54622174 on Build GRCh38
5647942	c.172C>G	p.Q58E	Chr.8: 54622243-54622243 on Build GRCh38
225261	c.191G>A	p.G64E	Chr.8: 54622262-54622262 on Build GRCh38
3649762	c.734G>A	p.G245E	Chr.8: 54622235-54622235 on Build GRCh38
138682	c.689G>A	p.G230E	Chr.8: 54622190-54622190 on Build GRCh38
3900690	c.69C>T	p.I23I	Chr.8: 54622140-54622140 on Build GRCh38
1100538	c.120A>G	p.G40G	Chr.8: 54622191-54622191 on Build GRCh38
3649754	c.628C>T	p.Q210*	Chr.8: 54622129-54622129 on Build GRCh38
751184	c.190G>T	p.G64*	Chr.8: 54622261-54622261 on Build GRCh38
6414012	c.780C>A	p.S260R	Chr.8: 54622281-54622281 on Build GRCh38
3925393	c.217+2T>G	p.?	Chr.8: 54622290-54622290 on Build GRCh38
4408140	c.638T>C	p.I213T	Chr.8: 54622139-54622139 on Build GRCh38
5817879	c.94G>T	p.A32S	Chr.8: 54622165-54622165 on Build GRCh38
5817878	c.664G>T	p.A222S	Chr.8: 54622165-54622165 on Build GRCh38
3663802	c.132C>A	p.I44I	Chr.8: 54622203-54622203 on Build GRCh38
5409697	c.97G>A	p.G33R	Chr.8: 54622168-54622168 on Build GRCh38
4567345	c.672_673GG>AA	p.E225K	Chr.8: 54622173-54622174 on Build GRCh38
3900689	c.639C>T	p.I213I	Chr.8: 54622140-54622140 on Build GRCh38
3925392	c.787+2T>G	p.?	Chr.8: 54622290-54622290 on Build GRCh38
3649757	c.98G>A	p.G33E	Chr.8: 54622169-54622169 on Build GRCh38
4408775	c.137A>G	p.K46R	Chr.8: 54622208-54622208 on Build GRCh38
4555129	c.642G>A	p.L214L	Chr.8: 54622143-54622143 on Build GRCh38
3649765	c.185C>T	p.P62L	Chr.8: 54622256-54622256 on Build GRCh38
4567346	c.102_103GG>AA	p.E35K	Chr.8: 54622173-54622174 on Build GRCh38
7189880	c.136A>G	p.K46E	Chr.8: 54622207-54622207 on Build GRCh38
3649761	c.110T>G	p.F37C	Chr.8: 54622181-54622181 on Build GRCh38
454680	c.132C>T	p.I44I	Chr.8: 54622203-54622203 on Build GRCh38
3649764	c.755C>T	p.P252L	Chr.8: 54622256-54622256 on Build GRCh38
1100535	c.669A>G	p.G223G	Chr.8: 54622170-54622170 on Build GRCh38
1700091	c.119G>A	p.G40E	Chr.8: 54622190-54622190 on Build GRCh38
5409696	c.667G>A	p.G223R	Chr.8: 54622168-54622168 on Build GRCh38
3996087	c.198A>G	p.A66A	Chr.8: 54622269-54622269 on Build GRCh38
3649756	c.668G>A	p.G223E	Chr.8: 54622169-54622169 on Build GRCh38
6768644	c.779G>A	p.S260N	Chr.8: 54622280-54622280 on Build GRCh38
454679	c.702C>T	p.I234I	Chr.8: 54622203-54622203 on Build GRCh38
3649760	c.680T>G	p.F227C	Chr.8: 54622181-54622181 on Build GRCh38
6113670	c.56T>G	p.L19R	Chr.8: 54622127-54622127 on Build GRCh38
3925391	c.192A>T	p.G64G	Chr.8: 54622263-54622263 on Build GRCh38
1178731	c.161C>A	p.P54Q	Chr.8: 54622232-54622232 on Build GRCh38
3900688	c.54C>T	p.S18S	Chr.8: 54622125-54622125 on Build GRCh38
7000571	c.616-6T>C	p.?	Chr.8: 54622111-54622111 on Build GRCh38
1100536	c.99A>G	p.G33G	Chr.8: 54622170-54622170 on Build GRCh38
3996086	c.768A>G	p.A256A	Chr.8: 54622269-54622269 on Build GRCh38
5577012	c.786G>A	p.K262K	Chr.8: 54622287-54622287 on Build GRCh38
1700092	c.718C>T	p.P240S	Chr.8: 54622219-54622219 on Build GRCh38
5577013	c.216G>A	p.K72K	Chr.8: 54622287-54622287 on Build GRCh38
5925445	c.77C>T	p.S26F	Chr.8: 54622148-54622148 on Build GRCh38
6113669	c.626T>G	p.L209R	Chr.8: 54622127-54622127 on Build GRCh38
5811287	c.783A>T	p.R261S	Chr.8: 54622284-54622284 on Build GRCh38
4408774	c.707A>G	p.K236R	Chr.8: 54622208-54622208 on Build GRCh38
3649767	c.190G>A	p.G64R	Chr.8: 54622261-54622261 on Build GRCh38
5811288	c.213A>T	p.R71S	Chr.8: 54622284-54622284 on Build GRCh38
1100534	c.93G>A	p.A31A	Chr.8: 54622164-54622164 on Build GRCh38
3900687	c.624C>T	p.S208S	Chr.8: 54622125-54622125 on Build GRCh38
1178730	c.731C>A	p.P244Q	Chr.8: 54622232-54622232 on Build GRCh38
5647941	c.742C>G	p.Q248E	Chr.8: 54622243-54622243 on Build GRCh38
3925390	c.762A>T	p.G254G	Chr.8: 54622263-54622263 on Build GRCh38
6768645	c.209G>A	p.S70N	Chr.8: 54622280-54622280 on Build GRCh38
3649755	c.58C>T	p.Q20*	Chr.8: 54622129-54622129 on Build GRCh38
7189879	c.706A>G	p.K236E	Chr.8: 54622207-54622207 on Build GRCh38
5925444	c.647C>T	p.S216F	Chr.8: 54622148-54622148 on Build GRCh38
6414013	c.210C>A	p.S70R	Chr.8: 54622281-54622281 on Build GRCh38
3649763	c.164G>A	p.G55E	Chr.8: 54622235-54622235 on Build GRCh38
7000572	c.46-6T>C	p.?	Chr.8: 54622111-54622111 on Build GRCh38
4555130	c.72G>A	p.L24L	Chr.8: 54622143-54622143 on Build GRCh38
3649759	c.103G>A	p.E35K	Chr.8: 54622174-54622174 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs1032798791	Chr.8: 54622477-54622477 on Build GRCh38
rs761808094	Chr.8: 54622328-54622328 on Build GRCh38
rs914790120	Chr.8: 54622475-54622475 on Build GRCh38
rs373574136	Chr.8: 54622247-54622247 on Build GRCh38
rs781445794	Chr.8: 54622220-54622220 on Build GRCh38
rs201892201	Chr.8: 54622084-54622084 on Build GRCh38
rs146337514	Chr.8: 54622119-54622119 on Build GRCh38
rs967270448	Chr.8: 54622454-54622454 on Build GRCh38
rs756392635	Chr.8: 54622328-54622329 on Build GRCh38
rs190484195	Chr.8: 54622199-54622199 on Build GRCh38
rs186571865	Chr.8: 54622111-54622111 on Build GRCh38
rs207469187	Chr.8: 54622065-54622065 on Build GRCh38
rs769156393	Chr.8: 54622243-54622243 on Build GRCh38
rs550073225	Chr.8: 54622237-54622237 on Build GRCh38
rs145691085	Chr.8: 54622153-54622153 on Build GRCh38
rs758604193	Chr.8: 54622176-54622176 on Build GRCh38
rs534993935	Chr.8: 54622414-54622414 on Build GRCh38
rs139570650	Chr.8: 54622370-54622370 on Build GRCh38
rs892801523	Chr.8: 54622062-54622062 on Build GRCh38
rs780362977	Chr.8: 54622089-54622089 on Build GRCh38
rs863223340	Chr.8: 54622180-54622180 on Build GRCh38
rs780569571	Chr.8: 54622332-54622333 on Build GRCh38
rs990933958	Chr.8: 54622489-54622489 on Build GRCh38
rs1001046875	Chr.8: 54622467-54622467 on Build GRCh38
rs577635143	Chr.8: 54622340-54622340 on Build GRCh38
rs747236589	Chr.8: 54622102-54622102 on Build GRCh38
rs770516808	Chr.8: 54622136-54622136 on Build GRCh38
rs990840478	Chr.8: 54622134-54622134 on Build GRCh38
rs535728289	Chr.8: 54622362-54622362 on Build GRCh38
rs267601948	Chr.8: 54622140-54622140 on Build GRCh38
rs181614973	Chr.8: 54622484-54622484 on Build GRCh38
rs974031024	Chr.8: 54622294-54622294 on Build GRCh38
rs770300288	Chr.8: 54622246-54622246 on Build GRCh38
rs768964344	Chr.8: 54622105-54622105 on Build GRCh38
rs759197247	Chr.8: 54622145-54622145 on Build GRCh38
rs951414813	Chr.8: 54622363-54622363 on Build GRCh38
rs755182172	Chr.8: 54622216-54622216 on Build GRCh38
rs770414773	Chr.8: 54622137-54622137 on Build GRCh38
rs112524889	Chr.8: 54622396-54622396 on Build GRCh38
rs1011228800	Chr.8: 54622066-54622066 on Build GRCh38
rs779213123	Chr.8: 54622110-54622110 on Build GRCh38
rs772717240	Chr.8: 54622121-54622121 on Build GRCh38
rs16920614	Chr.8: 54622253-54622253 on Build GRCh38
rs745452078	Chr.8: 54622164-54622164 on Build GRCh38
rs759131798	Chr.8: 54622265-54622265 on Build GRCh38
rs558204863	Chr.8: 54622452-54622452 on Build GRCh38
rs570242074	Chr.8: 54622322-54622322 on Build GRCh38
rs527236105	Chr.8: 54622150-54622150 on Build GRCh38
rs779154813	Chr.8: 54622070-54622070 on Build GRCh38
rs749753331	Chr.8: 54622333-54622333 on Build GRCh38
rs902899929	Chr.8: 54622100-54622100 on Build GRCh38
rs979920705	Chr.8: 54622051-54622051 on Build GRCh38
rs753890350	Chr.8: 54622327-54622327 on Build GRCh38
rs113763758	Chr.8: 54622287-54622287 on Build GRCh38
rs771715697	Chr.8: 54622271-54622271 on Build GRCh38
rs770470055	Chr.8: 54622249-54622249 on Build GRCh38
rs760485111	Chr.8: 54622299-54622299 on Build GRCh38
rs752485908	Chr.8: 54622157-54622157 on Build GRCh38
rs959499478	Chr.8: 54622482-54622482 on Build GRCh38
rs563819315	Chr.8: 54622141-54622141 on Build GRCh38
rs773889365	Chr.8: 54622259-54622259 on Build GRCh38
rs55933920	Chr.8: 54622103-54622103 on Build GRCh38
rs760561079	Chr.8: 54622163-54622163 on Build GRCh38
rs751781610	Chr.8: 54622212-54622212 on Build GRCh38
rs1040350129	Chr.8: 54622460-54622460 on Build GRCh38
rs369804244	Chr.8: 54622165-54622165 on Build GRCh38
rs750540431	Chr.8: 54622167-54622167 on Build GRCh38
rs867820372	Chr.8: 54622128-54622128 on Build GRCh38
rs762393398	Chr.8: 54622123-54622123 on Build GRCh38

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