Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 54621477-54621720 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
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

Cosmic ID Mutation AA Transcript Location
6053897 c.578G>A p.R193H Chr.8: 54621544-54621544 on Build GRCh38
5718302 c.559C>T p.L187L Chr.8: 54621525-54621525 on Build GRCh38
6181285 c.566A>T p.E189V Chr.8: 54621532-54621532 on Build GRCh38
1457528 c.603G>A p.T201T Chr.8: 54621569-54621569 on Build GRCh38
5409694 c.595T>C p.Y199H Chr.8: 54621561-54621561 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs930163333 Chr.8: 54621665-54621665 on Build GRCh38
rs764786857 Chr.8: 54621535-54621535 on Build GRCh38
rs185880029 Chr.8: 54621587-54621587 on Build GRCh38
rs775972178 Chr.8: 54621501-54621501 on Build GRCh38
rs750120737 Chr.8: 54621537-54621537 on Build GRCh38
rs786205589 Chr.8: 54621573-54621573 on Build GRCh38
rs539171166 Chr.8: 54621613-54621613 on Build GRCh38
rs189557834 Chr.8: 54621684-54621684 on Build GRCh38
rs369346430 Chr.8: 54621612-54621612 on Build GRCh38
rs758027873 Chr.8: 54621538-54621538 on Build GRCh38
rs1038489040 Chr.8: 54621635-54621635 on Build GRCh38
rs774495291 Chr.8: 54621497-54621497 on Build GRCh38
rs772662288 Chr.8: 54621603-54621603 on Build GRCh38
rs374538807 Chr.8: 54621578-54621578 on Build GRCh38
rs767340311 Chr.8: 54621614-54621614 on Build GRCh38
rs752616151 Chr.8: 54621615-54621615 on Build GRCh38
rs553589641 Chr.8: 54621670-54621670 on Build GRCh38
rs199894846 Chr.8: 54621597-54621597 on Build GRCh38
rs374595990 Chr.8: 54621600-54621600 on Build GRCh38
rs756056177 Chr.8: 54621630-54621630 on Build GRCh38
rs1016332204 Chr.8: 54621588-54621588 on Build GRCh38
rs754949406 Chr.8: 54621544-54621544 on Build GRCh38
rs780935796 Chr.8: 54621547-54621547 on Build GRCh38
rs762627753 Chr.8: 54621606-54621606 on Build GRCh38
rs779103993 Chr.8: 54621565-54621565 on Build GRCh38
rs746083374 Chr.8: 54621499-54621499 on Build GRCh38
rs750680709 Chr.8: 54621511-54621512 on Build GRCh38
rs772604113 Chr.8: 54621500-54621500 on Build GRCh38
rs757348446 Chr.8: 54621564-54621564 on Build GRCh38
rs886210482 Chr.8: 54621582-54621582 on Build GRCh38
rs865776475 Chr.8: 54621671-54621671 on Build GRCh38
rs1007161399 Chr.8: 54621697-54621697 on Build GRCh38
rs776027191 Chr.8: 54621583-54621583 on Build GRCh38
rs764465585 Chr.8: 54621507-54621507 on Build GRCh38
rs751318405 Chr.8: 54621540-54621540 on Build GRCh38
rs557432569 Chr.8: 54621505-54621505 on Build GRCh38
rs148671787 Chr.8: 54621611-54621611 on Build GRCh38
rs201235412 Chr.8: 54621529-54621529 on Build GRCh38
rs761165965 Chr.8: 54621534-54621534 on Build GRCh38
rs989871887 Chr.8: 54621524-54621524 on Build GRCh38
rs945465293 Chr.8: 54621667-54621668 on Build GRCh38
rs373748746 Chr.8: 54621601-54621601 on Build GRCh38
rs199632605 Chr.8: 54621584-54621584 on Build GRCh38
rs368749564 Chr.8: 54621670-54621671 on Build GRCh38
rs897327943 Chr.8: 54621662-54621662 on Build GRCh38
rs746141363 Chr.8: 54621567-54621567 on Build GRCh38
rs766186000 Chr.8: 54621539-54621539 on Build GRCh38
rs748104371 Chr.8: 54621563-54621563 on Build GRCh38
rs772370251 Chr.8: 54621580-54621580 on Build GRCh38
rs913965165 Chr.8: 54621662-54621663 on Build GRCh38

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