Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.14: 21301117-21301360 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: RPGRIP1
Entrez Gene ID: 57096
Gene Name: retinitis pigmentosa GTPase regulator interacting protein 1
Gene Aliases: CORD13, LCA6, RGI1, RGRIP, RPGRIP, RPGRIP1d
UniGene: Hs.126035
Gene Chromosome Location: Chr.14: 21287977-21351316 on Build GRCh38
Transcripts: NM_020366.3

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
5656080	c.388T>G	p.C130G	Chr.14: 21301135-21301135 on Build GRCh38
4571042	c.371T>G	p.L124R	Chr.14: 21301118-21301118 on Build GRCh38
4049806	c.413G>A	p.R138H	Chr.14: 21301160-21301160 on Build GRCh38
4751063	c.484A>G	p.K162E	Chr.14: 21301231-21301231 on Build GRCh38
6353278	c.450C>G	p.L150L	Chr.14: 21301197-21301197 on Build GRCh38
4571043	c.371T>G	p.L124R	Chr.14: 21301118-21301118 on Build GRCh38
4984529	c.448C>T	p.L150F	Chr.14: 21301195-21301195 on Build GRCh38
401459	c.417C>A	p.A139A	Chr.14: 21301164-21301164 on Build GRCh38
401460	c.490+2T>A	p.?	Chr.14: 21301239-21301239 on Build GRCh38
7249704	c.409C>T	p.R137C	Chr.14: 21301156-21301156 on Build GRCh38
4765085	c.484_485insCAGA	p.K162fs*18	Chr.14: 21301231-21301232 on Build GRCh38
3987561	c.402C>T	p.A134A	Chr.14: 21301149-21301149 on Build GRCh38
4795838	c.378G>A	p.G126G	Chr.14: 21301125-21301125 on Build GRCh38
4049807	c.413G>A	p.R138H	Chr.14: 21301160-21301160 on Build GRCh38
4751062	c.484A>G	p.K162E	Chr.14: 21301231-21301231 on Build GRCh38
7309526	c.459C>G	p.A153A	Chr.14: 21301206-21301206 on Build GRCh38
6353277	c.450C>G	p.L150L	Chr.14: 21301197-21301197 on Build GRCh38
3987562	c.402C>T	p.A134A	Chr.14: 21301149-21301149 on Build GRCh38
4765086	c.484_485insCAGA	p.K162fs*18	Chr.14: 21301231-21301232 on Build GRCh38
4984528	c.448C>T	p.L150F	Chr.14: 21301195-21301195 on Build GRCh38
7309527	c.459C>G	p.A153A	Chr.14: 21301206-21301206 on Build GRCh38
5656081	c.388T>G	p.C130G	Chr.14: 21301135-21301135 on Build GRCh38
7249703	c.409C>T	p.R137C	Chr.14: 21301156-21301156 on Build GRCh38
4795839	c.378G>A	p.G126G	Chr.14: 21301125-21301125 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs372471202	Chr.14: 21301201-21301201 on Build GRCh38
rs751684215	Chr.14: 21301179-21301179 on Build GRCh38
rs755600406	Chr.14: 21301184-21301184 on Build GRCh38
rs776488741	Chr.14: 21301148-21301148 on Build GRCh38
rs562265480	Chr.14: 21301170-21301170 on Build GRCh38
rs144585562	Chr.14: 21301197-21301197 on Build GRCh38
rs766604917	Chr.14: 21301174-21301174 on Build GRCh38
rs11628996	Chr.14: 21301190-21301190 on Build GRCh38
rs769524098	Chr.14: 21301280-21301280 on Build GRCh38
rs866277722	Chr.14: 21301214-21301214 on Build GRCh38
rs779601115	Chr.14: 21301246-21301246 on Build GRCh38
rs762804365	Chr.14: 21301137-21301155 on Build GRCh38
rs773026720	Chr.14: 21301286-21301286 on Build GRCh38
rs1016587836	Chr.14: 21301218-21301218 on Build GRCh38
rs750630784	Chr.14: 21301161-21301161 on Build GRCh38
rs566003306	Chr.14: 21301212-21301212 on Build GRCh38
rs761513451	Chr.14: 21301159-21301159 on Build GRCh38
rs200740893	Chr.14: 21301248-21301248 on Build GRCh38
rs368528161	Chr.14: 21301220-21301220 on Build GRCh38
rs972428544	Chr.14: 21301265-21301265 on Build GRCh38
rs761758059	Chr.14: 21301275-21301275 on Build GRCh38
rs778179468	Chr.14: 21301208-21301208 on Build GRCh38
rs971651638	Chr.14: 21301327-21301327 on Build GRCh38
rs776461437	Chr.14: 21301251-21301251 on Build GRCh38
rs756459696	Chr.14: 21301206-21301206 on Build GRCh38
rs1025865898	Chr.14: 21301274-21301274 on Build GRCh38
rs766132168	Chr.14: 21301212-21301213 on Build GRCh38

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