Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 53769549-53769820 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
ATP6V1H
Entrez Gene ID
51606
Gene Name
ATPase H+ transporting V1 subunit H
Gene Aliases
CGI-11, MSTP042, NBP1, SFD, SFDalpha, SFDbeta, VMA13
UniGene
Hs.491737
Gene Chromosome Location
Chr.8: 53715543-53843311 on Build GRCh38
Transcripts
NM_015941.3 NM_213619.2 NM_213620.2 XM_006716455.2 XM_011517542.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5893280 c.1070C>T p.S357L Chr.8: 53769723-53769723 on Build GRCh38
3900633 c.1041A>G p.E347E Chr.8: 53769698-53769698 on Build GRCh38
1283582 c.1056C>G p.H352Q Chr.8: 53769683-53769683 on Build GRCh38
6421216 c.1109A>G p.Y370C Chr.8: 53769630-53769630 on Build GRCh38
1283581 c.1110C>G p.H370Q Chr.8: 53769683-53769683 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs911219910 Chr.8: 53769600-53769600 on Build GRCh38
rs552196320 Chr.8: 53769758-53769758 on Build GRCh38
rs765510456 Chr.8: 53769623-53769623 on Build GRCh38
rs776742592 Chr.8: 53769594-53769594 on Build GRCh38
rs370578376 Chr.8: 53769754-53769754 on Build GRCh38
rs1011151094 Chr.8: 53769589-53769590 on Build GRCh38
rs112038714 Chr.8: 53769621-53769621 on Build GRCh38
rs1003880197 Chr.8: 53769759-53769759 on Build GRCh38
rs149286493 Chr.8: 53769634-53769634 on Build GRCh38
rs752068866 Chr.8: 53769676-53769676 on Build GRCh38
rs113474015 Chr.8: 53769728-53769728 on Build GRCh38
rs867048020 Chr.8: 53769686-53769686 on Build GRCh38
rs111507970 Chr.8: 53769633-53769633 on Build GRCh38
rs551666236 Chr.8: 53769661-53769661 on Build GRCh38
rs575224776 Chr.8: 53769718-53769718 on Build GRCh38
rs766679166 Chr.8: 53769668-53769668 on Build GRCh38
rs1023549178 Chr.8: 53769632-53769632 on Build GRCh38
rs564202217 Chr.8: 53769771-53769772 on Build GRCh38
rs143504845 Chr.8: 53769635-53769635 on Build GRCh38
rs755483881 Chr.8: 53769678-53769678 on Build GRCh38
rs1009382139 Chr.8: 53769692-53769692 on Build GRCh38
rs748915070 Chr.8: 53769775-53769775 on Build GRCh38
rs142433792 Chr.8: 53769743-53769743 on Build GRCh38
rs57348174 Chr.8: 53769698-53769698 on Build GRCh38
rs545101310 Chr.8: 53769584-53769584 on Build GRCh38
rs762009054 Chr.8: 53769606-53769606 on Build GRCh38

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