Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 21303430-21303659 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
3706183 c.729A>G p.K243K Chr.14: 21303472-21303472 on Build GRCh38
3706181 c.726G>C p.E242D Chr.14: 21303469-21303469 on Build GRCh38
4557387 c.726G>A p.E242E Chr.14: 21303469-21303469 on Build GRCh38
2029687 c.707A>C p.E236A Chr.14: 21303450-21303450 on Build GRCh38
4557386 c.726G>A p.E242E Chr.14: 21303469-21303469 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs758239674 Chr.14: 21303543-21303543 on Build GRCh38
rs201993777 Chr.14: 21303578-21303578 on Build GRCh38
rs747299491 Chr.14: 21303552-21303552 on Build GRCh38
rs768757891 Chr.14: 21303558-21303558 on Build GRCh38
rs760211909 Chr.14: 21303485-21303485 on Build GRCh38
rs537769664 Chr.14: 21303512-21303512 on Build GRCh38
rs752442850 Chr.14: 21303483-21303483 on Build GRCh38
rs773652846 Chr.14: 21303454-21303454 on Build GRCh38
rs554396590 Chr.14: 21303542-21303542 on Build GRCh38
rs1026338759 Chr.14: 21303612-21303612 on Build GRCh38
rs774573029 Chr.14: 21303589-21303589 on Build GRCh38
rs895051630 Chr.14: 21303609-21303609 on Build GRCh38
rs781308539 Chr.14: 21303563-21303563 on Build GRCh38
rs780673799 Chr.14: 21303530-21303530 on Build GRCh38
rs755670354 Chr.14: 21303546-21303548 on Build GRCh38
rs748241938 Chr.14: 21303565-21303565 on Build GRCh38
rs376500610 Chr.14: 21303544-21303544 on Build GRCh38
rs398124356 Chr.14: 21303526-21303526 on Build GRCh38
rs550678157 Chr.14: 21303620-21303620 on Build GRCh38
rs994822001 Chr.14: 21303605-21303605 on Build GRCh38
rs763761321 Chr.14: 21303500-21303500 on Build GRCh38
rs186735173 Chr.14: 21303579-21303579 on Build GRCh38
rs554131291 Chr.14: 21303601-21303601 on Build GRCh38
rs771366351 Chr.14: 21303581-21303581 on Build GRCh38
rs1008051417 Chr.14: 21303535-21303535 on Build GRCh38
rs890656280 Chr.14: 21303494-21303494 on Build GRCh38
rs766603726 Chr.14: 21303471-21303471 on Build GRCh38
rs763380102 Chr.14: 21303456-21303456 on Build GRCh38
rs769799600 Chr.14: 21303572-21303572 on Build GRCh38

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