Product Details

Primer Sequences
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Primer Chromosome Location
Chr.3: 128087649-128087874 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
RUVBL1
Entrez Gene ID
8607
Gene Name
RuvB like AAA ATPase 1
Gene Aliases
ECP-54, ECP54, INO80H, NMP 238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
UniGene
Hs.272822
Gene Chromosome Location
Chr.3: 128064612-128153914 on Build GRCh38
Transcripts
NM_001319084.1 NM_001319086.1 NM_003707.2 XM_005247841.3 XM_011513248.1 XM_011513249.2 XM_017007356.1 XM_017007357.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3408202 c.1097A>G p.Y366C Chr.3: 128087728-128087728 on Build GRCh38
402355 c.1099A>T p.T367S Chr.3: 128087726-128087726 on Build GRCh38
6770787 c.1045G>A p.G349S Chr.3: 128087780-128087780 on Build GRCh38
727605 c.1026G>T p.E342D Chr.3: 128087799-128087799 on Build GRCh38
1037965 c.1107G>T p.Q369H Chr.3: 128087718-128087718 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs949710384 Chr.3: 128087756-128087756 on Build GRCh38
rs758965970 Chr.3: 128087700-128087700 on Build GRCh38
rs753122930 Chr.3: 128087694-128087694 on Build GRCh38
rs756557310 Chr.3: 128087690-128087690 on Build GRCh38
rs760254174 Chr.3: 128087687-128087687 on Build GRCh38
rs546455182 Chr.3: 128087741-128087741 on Build GRCh38
rs375261362 Chr.3: 128087833-128087833 on Build GRCh38
rs772055847 Chr.3: 128087785-128087785 on Build GRCh38
rs749144715 Chr.3: 128087755-128087755 on Build GRCh38
rs951479214 Chr.3: 128087807-128087807 on Build GRCh38
rs780134491 Chr.3: 128087753-128087753 on Build GRCh38
rs369615717 Chr.3: 128087740-128087740 on Build GRCh38
rs202079333 Chr.3: 128087692-128087692 on Build GRCh38
rs773954764 Chr.3: 128087770-128087770 on Build GRCh38
rs371958946 Chr.3: 128087781-128087781 on Build GRCh38
rs937121794 Chr.3: 128087843-128087843 on Build GRCh38
rs767286704 Chr.3: 128087677-128087677 on Build GRCh38
rs765937638 Chr.3: 128087811-128087811 on Build GRCh38
rs1026742095 Chr.3: 128087797-128087797 on Build GRCh38
rs372205410 Chr.3: 128087718-128087718 on Build GRCh38
rs185484155 Chr.3: 128087805-128087805 on Build GRCh38
rs753857013 Chr.3: 128087734-128087734 on Build GRCh38
rs772966421 Chr.3: 128087802-128087802 on Build GRCh38
rs777939422 Chr.3: 128087843-128087844 on Build GRCh38
rs375084411 Chr.3: 128087701-128087701 on Build GRCh38
rs764434527 Chr.3: 128087685-128087685 on Build GRCh38
rs776234758 Chr.3: 128087831-128087831 on Build GRCh38
rs374231355 Chr.3: 128087719-128087719 on Build GRCh38
rs71329983 Chr.3: 128087695-128087695 on Build GRCh38
rs768640407 Chr.3: 128087763-128087763 on Build GRCh38

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