Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 53814520-53815024 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
3367371 c.510T>C p.T170T Chr.8: 53814677-53814677 on Build GRCh38
6578469 c.478G>A p.D160N Chr.8: 53814709-53814709 on Build GRCh38
1755747 c.521C>T p.S174L Chr.8: 53814666-53814666 on Build GRCh38
3716028 c.515T>G p.L172R Chr.8: 53814672-53814672 on Build GRCh38
1100505 c.460G>T p.E154* Chr.8: 53814727-53814727 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs186792455 Chr.8: 53814561-53814561 on Build GRCh38
rs778824554 Chr.8: 53814774-53814774 on Build GRCh38
rs115965231 Chr.8: 53814895-53814895 on Build GRCh38
rs754543287 Chr.8: 53814739-53814739 on Build GRCh38
rs894709572 Chr.8: 53814629-53814629 on Build GRCh38
rs953077947 Chr.8: 53814641-53814641 on Build GRCh38
rs747033289 Chr.8: 53814779-53814779 on Build GRCh38
rs963921844 Chr.8: 53814863-53814863 on Build GRCh38
rs776793824 Chr.8: 53814782-53814782 on Build GRCh38
rs775488980 Chr.8: 53814661-53814661 on Build GRCh38
rs968813642 Chr.8: 53814935-53814935 on Build GRCh38
rs763514820 Chr.8: 53814795-53814795 on Build GRCh38
rs77681056 Chr.8: 53814836-53814836 on Build GRCh38
rs772167523 Chr.8: 53814652-53814652 on Build GRCh38
rs760880813 Chr.8: 53814664-53814664 on Build GRCh38
rs752425524 Chr.8: 53814747-53814747 on Build GRCh38
rs867931187 Chr.8: 53814585-53814585 on Build GRCh38
rs373886277 Chr.8: 53814741-53814741 on Build GRCh38
rs557225648 Chr.8: 53814865-53814865 on Build GRCh38
rs977185057 Chr.8: 53814990-53814990 on Build GRCh38
rs868253023 Chr.8: 53814977-53814977 on Build GRCh38
rs965468624 Chr.8: 53814692-53814692 on Build GRCh38
rs145760421 Chr.8: 53814600-53814600 on Build GRCh38
rs769495368 Chr.8: 53814638-53814638 on Build GRCh38
rs993576135 Chr.8: 53814783-53814783 on Build GRCh38
rs868049202 Chr.8: 53814750-53814750 on Build GRCh38
rs747888987 Chr.8: 53814625-53814625 on Build GRCh38
rs1019461443 Chr.8: 53814855-53814855 on Build GRCh38
rs773157461 Chr.8: 53814649-53814649 on Build GRCh38
rs773704197 Chr.8: 53814551-53814551 on Build GRCh38
rs201338162 Chr.8: 53814679-53814679 on Build GRCh38
rs748578281 Chr.8: 53814882-53814882 on Build GRCh38
rs187053889 Chr.8: 53814869-53814869 on Build GRCh38
rs182719588 Chr.8: 53814766-53814766 on Build GRCh38
rs762063890 Chr.8: 53814787-53814787 on Build GRCh38
rs138441941 Chr.8: 53814798-53814798 on Build GRCh38
rs767172132 Chr.8: 53814815-53814815 on Build GRCh38
rs768746200 Chr.8: 53814781-53814781 on Build GRCh38
rs759073085 Chr.8: 53814808-53814808 on Build GRCh38
rs78507608 Chr.8: 53814813-53814813 on Build GRCh38
rs762117585 Chr.8: 53814678-53814678 on Build GRCh38
rs545417050 Chr.8: 53814550-53814550 on Build GRCh38
rs567732781 Chr.8: 53814603-53814603 on Build GRCh38
rs755903568 Chr.8: 53814755-53814755 on Build GRCh38
rs61733221 Chr.8: 53814729-53814729 on Build GRCh38
rs752372496 Chr.8: 53814817-53814817 on Build GRCh38
rs114660750 Chr.8: 53814674-53814674 on Build GRCh38
rs754739208 Chr.8: 53814616-53814616 on Build GRCh38
rs201294011 Chr.8: 53814615-53814615 on Build GRCh38
rs1008040384 Chr.8: 53814825-53814825 on Build GRCh38
rs764233382 Chr.8: 53814668-53814668 on Build GRCh38
rs752129411 Chr.8: 53814799-53814799 on Build GRCh38
rs988233066 Chr.8: 53814838-53814838 on Build GRCh38
rs560493381 Chr.8: 53814794-53814794 on Build GRCh38
rs976481598 Chr.8: 53814789-53814789 on Build GRCh38
rs201773477 Chr.8: 53814757-53814757 on Build GRCh38
rs370437064 Chr.8: 53814699-53814699 on Build GRCh38
rs199524417 Chr.8: 53814737-53814737 on Build GRCh38
rs770838512 Chr.8: 53814773-53814773 on Build GRCh38
rs552939759 Chr.8: 53814913-53814913 on Build GRCh38
rs531218613 Chr.8: 53814597-53814597 on Build GRCh38
rs763421167 Chr.8: 53814696-53814696 on Build GRCh38
rs770174639 Chr.8: 53814788-53814788 on Build GRCh38
rs749221410 Chr.8: 53814650-53814650 on Build GRCh38
rs144707522 Chr.8: 53814689-53814689 on Build GRCh38

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