Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 53817125-53817623 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
6516202 c.383C>T p.P128L Chr.8: 53817454-53817454 on Build GRCh38
4628761 c.417T>C p.H139H Chr.8: 53817420-53817420 on Build GRCh38
5422805 c.350G>C p.C117S Chr.8: 53817487-53817487 on Build GRCh38
3649723 c.394C>T p.R132C Chr.8: 53817443-53817443 on Build GRCh38
3432458 c.320G>A p.R107H Chr.8: 53817517-53817517 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs375015656 Chr.8: 53817471-53817471 on Build GRCh38
rs759761777 Chr.8: 53817535-53817539 on Build GRCh38
rs751723098 Chr.8: 53817292-53817292 on Build GRCh38
rs141493839 Chr.8: 53817421-53817421 on Build GRCh38
rs763173447 Chr.8: 53817429-53817429 on Build GRCh38
rs756234687 Chr.8: 53817522-53817522 on Build GRCh38
rs984045117 Chr.8: 53817392-53817392 on Build GRCh38
rs768691397 Chr.8: 53817400-53817400 on Build GRCh38
rs951998496 Chr.8: 53817588-53817588 on Build GRCh38
rs895138192 Chr.8: 53817589-53817589 on Build GRCh38
rs532430189 Chr.8: 53817452-53817452 on Build GRCh38
rs984713402 Chr.8: 53817591-53817591 on Build GRCh38
rs781299965 Chr.8: 53817403-53817403 on Build GRCh38
rs183623790 Chr.8: 53817380-53817380 on Build GRCh38
rs748113513 Chr.8: 53817518-53817518 on Build GRCh38
rs902606978 Chr.8: 53817264-53817264 on Build GRCh38
rs979922545 Chr.8: 53817298-53817298 on Build GRCh38
rs1030998565 Chr.8: 53817235-53817235 on Build GRCh38
rs756424469 Chr.8: 53817312-53817312 on Build GRCh38
rs941654539 Chr.8: 53817169-53817172 on Build GRCh38
rs900201834 Chr.8: 53817199-53817200 on Build GRCh38
rs773491059 Chr.8: 53817428-53817428 on Build GRCh38
rs866353559 Chr.8: 53817422-53817422 on Build GRCh38
rs368773142 Chr.8: 53817544-53817544 on Build GRCh38
rs546123038 Chr.8: 53817154-53817154 on Build GRCh38
rs763629252 Chr.8: 53817579-53817579 on Build GRCh38
rs1013517265 Chr.8: 53817519-53817519 on Build GRCh38
rs750339631 Chr.8: 53817511-53817511 on Build GRCh38
rs771448682 Chr.8: 53817442-53817442 on Build GRCh38
rs771448577 Chr.8: 53817548-53817548 on Build GRCh38
rs774963761 Chr.8: 53817443-53817443 on Build GRCh38
rs531407769 Chr.8: 53817593-53817593 on Build GRCh38
rs765057855 Chr.8: 53817499-53817499 on Build GRCh38
rs931884260 Chr.8: 53817206-53817206 on Build GRCh38
rs776052877 Chr.8: 53817577-53817577 on Build GRCh38
rs543871627 Chr.8: 53817221-53817221 on Build GRCh38
rs776179681 Chr.8: 53817582-53817582 on Build GRCh38
rs755778103 Chr.8: 53817369-53817369 on Build GRCh38
rs961955950 Chr.8: 53817598-53817598 on Build GRCh38
rs139691585 Chr.8: 53817374-53817374 on Build GRCh38
rs1053144037 Chr.8: 53817496-53817496 on Build GRCh38
rs758389939 Chr.8: 53817513-53817513 on Build GRCh38
rs1024935341 Chr.8: 53817524-53817524 on Build GRCh38
rs748390801 Chr.8: 53817405-53817405 on Build GRCh38
rs776860528 Chr.8: 53817403-53817403 on Build GRCh38
rs576586594 Chr.8: 53817219-53817219 on Build GRCh38
rs556307578 Chr.8: 53817210-53817210 on Build GRCh38
rs540228337 Chr.8: 53817385-53817385 on Build GRCh38
rs538242916 Chr.8: 53817234-53817234 on Build GRCh38
rs1000789592 Chr.8: 53817289-53817289 on Build GRCh38
rs772775442 Chr.8: 53817556-53817556 on Build GRCh38
rs969464831 Chr.8: 53817281-53817281 on Build GRCh38
rs761595443 Chr.8: 53817553-53817553 on Build GRCh38
rs1024985825 Chr.8: 53817273-53817273 on Build GRCh38
rs1037377973 Chr.8: 53817198-53817198 on Build GRCh38
rs760235191 Chr.8: 53817481-53817481 on Build GRCh38
rs922975431 Chr.8: 53817381-53817381 on Build GRCh38
rs1013610337 Chr.8: 53817271-53817271 on Build GRCh38
rs35983124 Chr.8: 53817238-53817238 on Build GRCh38
rs560215876 Chr.8: 53817386-53817386 on Build GRCh38
rs956728461 Chr.8: 53817238-53817238 on Build GRCh38
rs904058442 Chr.8: 53817454-53817454 on Build GRCh38
rs907523002 Chr.8: 53817365-53817365 on Build GRCh38
rs745836806 Chr.8: 53817397-53817397 on Build GRCh38
rs775204858 Chr.8: 53817472-53817472 on Build GRCh38
rs931667632 Chr.8: 53817510-53817510 on Build GRCh38
rs191378158 Chr.8: 53817349-53817349 on Build GRCh38
rs763594141 Chr.8: 53817483-53817483 on Build GRCh38
rs146174310 Chr.8: 53817526-53817526 on Build GRCh38
rs562675599 Chr.8: 53817517-53817517 on Build GRCh38
rs951989682 Chr.8: 53817322-53817322 on Build GRCh38
rs774802183 Chr.8: 53817549-53817549 on Build GRCh38
rs753550685 Chr.8: 53817497-53817497 on Build GRCh38

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