Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 125049009-125049242 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
KIAA0196
Entrez Gene ID
9897
Gene Name
KIAA0196
Gene Aliases
RTSC, RTSC1, SPG8
UniGene
Hs.270043
Gene Chromosome Location
Chr.8: 125024260-125091819 on Build GRCh38
Transcripts
NM_014846.3 XM_005251120.3 XM_011517409.1 XM_017014113.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3924611 c.2364C>A p.N788K Chr.8: 125049021-125049021 on Build GRCh38
7324531 c.2361T>C p.N787N Chr.8: 125049024-125049024 on Build GRCh38
5408805 c.2355G>A p.E785E Chr.8: 125049030-125049030 on Build GRCh38
5919574 c.2227G>A p.E743K Chr.8: 125049158-125049158 on Build GRCh38
1095960 c.2376G>A p.T792T Chr.8: 125049009-125049009 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs188924154 Chr.8: 125049189-125049189 on Build GRCh38
rs760751846 Chr.8: 125049062-125049062 on Build GRCh38
rs754365664 Chr.8: 125049110-125049110 on Build GRCh38
rs184833599 Chr.8: 125049112-125049112 on Build GRCh38
rs774410498 Chr.8: 125049048-125049048 on Build GRCh38
rs1009315882 Chr.8: 125049131-125049131 on Build GRCh38
rs761531505 Chr.8: 125049173-125049173 on Build GRCh38
rs369066764 Chr.8: 125049114-125049114 on Build GRCh38
rs766834018 Chr.8: 125049065-125049065 on Build GRCh38
rs774262328 Chr.8: 125049164-125049164 on Build GRCh38
rs768334652 Chr.8: 125049162-125049162 on Build GRCh38
rs766496959 Chr.8: 125049194-125049194 on Build GRCh38
rs760834906 Chr.8: 125049142-125049142 on Build GRCh38
rs1046042687 Chr.8: 125049154-125049154 on Build GRCh38
rs750463169 Chr.8: 125049058-125049058 on Build GRCh38
rs768590504 Chr.8: 125049041-125049041 on Build GRCh38
rs146623998 Chr.8: 125049053-125049053 on Build GRCh38
rs926073525 Chr.8: 125049065-125049067 on Build GRCh38
rs551298653 Chr.8: 125049127-125049127 on Build GRCh38
rs754312921 Chr.8: 125049197-125049197 on Build GRCh38
rs376307168 Chr.8: 125049147-125049147 on Build GRCh38
rs962471572 Chr.8: 125049201-125049201 on Build GRCh38
rs780719370 Chr.8: 125049128-125049128 on Build GRCh38
rs773339096 Chr.8: 125049190-125049190 on Build GRCh38
rs779374168 Chr.8: 125049113-125049113 on Build GRCh38
rs762794631 Chr.8: 125049039-125049039 on Build GRCh38
rs372081943 Chr.8: 125049129-125049129 on Build GRCh38
rs760696858 Chr.8: 125049191-125049191 on Build GRCh38
rs181478198 Chr.8: 125049203-125049203 on Build GRCh38
rs868624669 Chr.8: 125049148-125049148 on Build GRCh38
rs769456982 Chr.8: 125049133-125049133 on Build GRCh38

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