Product Details

Primer Sequences
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Primer Chromosome Location
Chr.8: 53801608-53802139 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
5904312 c.601G>T p.V201L Chr.8: 53801875-53801875 on Build GRCh38
3432456 c.584C>T p.S195L Chr.8: 53801892-53801892 on Build GRCh38
1100504 c.589C>T p.R197C Chr.8: 53801833-53801833 on Build GRCh38
6113680 c.606C>T p.A202A Chr.8: 53801870-53801870 on Build GRCh38
6113682 c.642C>G p.Y214* Chr.8: 53801834-53801834 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs761839474 Chr.8: 53801928-53801928 on Build GRCh38
rs770394341 Chr.8: 53801892-53801892 on Build GRCh38
rs753840947 Chr.8: 53801848-53801848 on Build GRCh38
rs770447527 Chr.8: 53801799-53801799 on Build GRCh38
rs142484224 Chr.8: 53801728-53801728 on Build GRCh38
rs759271126 Chr.8: 53801821-53801821 on Build GRCh38
rs1020627629 Chr.8: 53801811-53801811 on Build GRCh38
rs183831519 Chr.8: 53801675-53801675 on Build GRCh38
rs139364478 Chr.8: 53801870-53801870 on Build GRCh38
rs764057879 Chr.8: 53801841-53801841 on Build GRCh38
rs376635956 Chr.8: 53801946-53801946 on Build GRCh38
rs775010059 Chr.8: 53801907-53801907 on Build GRCh38
rs982025839 Chr.8: 53801802-53801802 on Build GRCh38
rs770393500 Chr.8: 53801777-53801777 on Build GRCh38
rs142293683 Chr.8: 53801823-53801823 on Build GRCh38
rs919231813 Chr.8: 53801683-53801683 on Build GRCh38
rs535849322 Chr.8: 53802078-53802078 on Build GRCh38
rs770806246 Chr.8: 53801985-53801985 on Build GRCh38
rs371612545 Chr.8: 53801927-53801927 on Build GRCh38
rs933352769 Chr.8: 53801694-53801694 on Build GRCh38
rs778200705 Chr.8: 53801885-53801885 on Build GRCh38
rs755280307 Chr.8: 53801875-53801875 on Build GRCh38
rs773949456 Chr.8: 53801806-53801806 on Build GRCh38
rs778442158 Chr.8: 53801893-53801893 on Build GRCh38
rs569479143 Chr.8: 53801973-53801973 on Build GRCh38
rs1048360146 Chr.8: 53801914-53801914 on Build GRCh38
rs146380497 Chr.8: 53801832-53801832 on Build GRCh38
rs367933437 Chr.8: 53801768-53801768 on Build GRCh38
rs756656788 Chr.8: 53802114-53802114 on Build GRCh38
rs759676265 Chr.8: 53801948-53801948 on Build GRCh38
rs371730722 Chr.8: 53801917-53801917 on Build GRCh38
rs778253915 Chr.8: 53801778-53801778 on Build GRCh38
rs756445508 Chr.8: 53801880-53801880 on Build GRCh38
rs374721364 Chr.8: 53801929-53801929 on Build GRCh38
rs760460241 Chr.8: 53801909-53801909 on Build GRCh38
rs763080738 Chr.8: 53801852-53801852 on Build GRCh38
rs999680994 Chr.8: 53801947-53801947 on Build GRCh38
rs1034919473 Chr.8: 53801999-53801999 on Build GRCh38
rs781652197 Chr.8: 53801763-53801763 on Build GRCh38
rs749823612 Chr.8: 53801891-53801891 on Build GRCh38
rs892991492 Chr.8: 53801766-53801766 on Build GRCh38
rs750893356 Chr.8: 53802077-53802077 on Build GRCh38
rs150026891 Chr.8: 53801876-53801876 on Build GRCh38
rs893526657 Chr.8: 53801976-53801976 on Build GRCh38
rs1000135676 Chr.8: 53801682-53801682 on Build GRCh38
rs146429267 Chr.8: 53801979-53801979 on Build GRCh38
rs530131000 Chr.8: 53801720-53801720 on Build GRCh38
rs919542659 Chr.8: 53801989-53801989 on Build GRCh38
rs148431022 Chr.8: 53801705-53801705 on Build GRCh38
rs971896043 Chr.8: 53802052-53802052 on Build GRCh38
rs201744985 Chr.8: 53801932-53801932 on Build GRCh38
rs745491994 Chr.8: 53801899-53801899 on Build GRCh38
rs958050552 Chr.8: 53801696-53801696 on Build GRCh38
rs910568275 Chr.8: 53802039-53802039 on Build GRCh38
rs376873388 Chr.8: 53801991-53801991 on Build GRCh38
rs943436103 Chr.8: 53802046-53802046 on Build GRCh38
rs1051797477 Chr.8: 53801703-53801703 on Build GRCh38
rs748734482 Chr.8: 53801790-53801790 on Build GRCh38
rs191124923 Chr.8: 53801670-53801670 on Build GRCh38
rs374719193 Chr.8: 53801758-53801758 on Build GRCh38
rs774103976 Chr.8: 53801749-53801750 on Build GRCh38
rs766598818 Chr.8: 53801869-53801869 on Build GRCh38
rs541136968 Chr.8: 53801680-53801680 on Build GRCh38
rs1039484119 Chr.8: 53801732-53801732 on Build GRCh38
rs771824192 Chr.8: 53801903-53801903 on Build GRCh38
rs577743614 Chr.8: 53801983-53801983 on Build GRCh38
rs766547473 Chr.8: 53801945-53801945 on Build GRCh38
rs565127785 Chr.8: 53801645-53801645 on Build GRCh38
rs556655921 Chr.8: 53801998-53801998 on Build GRCh38
rs16919569 Chr.8: 53802050-53802050 on Build GRCh38
rs901461732 Chr.8: 53801936-53801936 on Build GRCh38
rs557885495 Chr.8: 53801713-53801713 on Build GRCh38
rs1053061642 Chr.8: 53801971-53801971 on Build GRCh38
rs753176631 Chr.8: 53801877-53801877 on Build GRCh38

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