Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 21311773-21312034 on Build GRCh38
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
4562663 c.938G>A p.G313E Chr.14: 21311831-21311831 on Build GRCh38
5382051 c.937G>A p.G313R Chr.14: 21311830-21311830 on Build GRCh38
1300480 c.1045G>A p.D349N Chr.14: 21311938-21311938 on Build GRCh38
7308735 c.1042G>T p.E348* Chr.14: 21311935-21311935 on Build GRCh38
416250 c.958G>A p.E320K Chr.14: 21311851-21311851 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs775426540 Chr.14: 21311862-21311862 on Build GRCh38
rs886050398 Chr.14: 21311983-21311983 on Build GRCh38
rs374092592 Chr.14: 21311933-21311933 on Build GRCh38
rs752074077 Chr.14: 21311823-21311823 on Build GRCh38
rs780714468 Chr.14: 21311800-21311800 on Build GRCh38
rs371538270 Chr.14: 21311807-21311807 on Build GRCh38
rs924743831 Chr.14: 21311821-21311821 on Build GRCh38
rs757950016 Chr.14: 21311981-21311981 on Build GRCh38
rs778477037 Chr.14: 21311850-21311850 on Build GRCh38
rs755322533 Chr.14: 21311831-21311831 on Build GRCh38
rs372002940 Chr.14: 21311915-21311915 on Build GRCh38
rs1013585766 Chr.14: 21311799-21311799 on Build GRCh38
rs763158422 Chr.14: 21311892-21311892 on Build GRCh38
rs762003618 Chr.14: 21311880-21311880 on Build GRCh38
rs913020687 Chr.14: 21311922-21311922 on Build GRCh38
rs917609289 Chr.14: 21311832-21311832 on Build GRCh38
rs767828631 Chr.14: 21311936-21311936 on Build GRCh38
rs1023673456 Chr.14: 21311820-21311820 on Build GRCh38
rs778566721 Chr.14: 21311967-21311967 on Build GRCh38
rs374188857 Chr.14: 21311822-21311822 on Build GRCh38
rs766519169 Chr.14: 21311905-21311905 on Build GRCh38
rs753119341 Chr.14: 21311947-21311947 on Build GRCh38
rs541327555 Chr.14: 21311872-21311872 on Build GRCh38
rs773504349 Chr.14: 21311886-21311886 on Build GRCh38
rs776485302 Chr.14: 21311878-21311878 on Build GRCh38
rs781598232 Chr.14: 21311836-21311836 on Build GRCh38
rs199982906 Chr.14: 21311861-21311861 on Build GRCh38
rs745385433 Chr.14: 21311853-21311853 on Build GRCh38
rs755480742 Chr.14: 21311919-21311919 on Build GRCh38
rs758992207 Chr.14: 21311856-21311858 on Build GRCh38
rs748959859 Chr.14: 21311841-21311841 on Build GRCh38
rs756365691 Chr.14: 21311952-21311952 on Build GRCh38
rs765512694 Chr.14: 21311884-21311884 on Build GRCh38
rs975867738 Chr.14: 21311989-21311989 on Build GRCh38
rs374911554 Chr.14: 21311973-21311973 on Build GRCh38
rs756920414 Chr.14: 21311849-21311849 on Build GRCh38
rs768371536 Chr.14: 21311874-21311874 on Build GRCh38

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