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2025-05-09 20:36:47, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012463 6550 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2
(ATP6V0A2), mRNA.
ACCESSION NM_012463
VERSION NM_012463.3 GI:254675222
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 6550)
AUTHORS Fischer,B., Dimopoulou,A., Egerer,J., Gardeitchik,T., Kidd,A.,
Jost,D., Kayserili,H., Alanay,Y., Tantcheva-Poor,I., Mangold,E.,
Daumer-Haas,C., Phadke,S., Peirano,R.I., Heusel,J., Desphande,C.,
Gupta,N., Nanda,A., Felix,E., Berry-Kravis,E., Kabra,M.,
Wevers,R.A., van Maldergem,L., Mundlos,S., Morava,E. and Kornak,U.
TITLE Further characterization of ATP6V0A2-related autosomal recessive
cutis laxa
JOURNAL Hum. Genet. 131 (11), 1761-1773 (2012)
PUBMED 22773132
REMARK GeneRIF: Mutations in the ATP6V0A2 gene is associated with
autosomal recessive cutis laxa.
REFERENCE 2 (bases 1 to 6550)
AUTHORS Dastani,Z., Hivert,M.F., Timpson,N., Perry,J.R., Yuan,X.,
Scott,R.A., Henneman,P., Heid,I.M., Kizer,J.R., Lyytikainen,L.P.,
Fuchsberger,C., Tanaka,T., Morris,A.P., Small,K., Isaacs,A.,
Beekman,M., Coassin,S., Lohman,K., Qi,L., Kanoni,S., Pankow,J.S.,
Uh,H.W., Wu,Y., Bidulescu,A., Rasmussen-Torvik,L.J.,
Greenwood,C.M., Ladouceur,M., Grimsby,J., Manning,A.K., Liu,C.T.,
Kooner,J., Mooser,V.E., Vollenweider,P., Kapur,K.A., Chambers,J.,
Wareham,N.J., Langenberg,C., Frants,R., Willems-Vandijk,K.,
Oostra,B.A., Willems,S.M., Lamina,C., Winkler,T.W., Psaty,B.M.,
Tracy,R.P., Brody,J., Chen,I., Viikari,J., Kahonen,M.,
Pramstaller,P.P., Evans,D.M., St Pourcain,B., Sattar,N., Wood,A.R.,
Bandinelli,S., Carlson,O.D., Egan,J.M., Bohringer,S., van
Heemst,D., Kedenko,L., Kristiansson,K., Nuotio,M.L., Loo,B.M.,
Harris,T., Garcia,M., Kanaya,A., Haun,M., Klopp,N., Wichmann,H.E.,
Deloukas,P., Katsareli,E., Couper,D.J., Duncan,B.B.,
Kloppenburg,M., Adair,L.S., Borja,J.B., Wilson,J.G., Musani,S.,
Guo,X., Johnson,T., Semple,R., Teslovich,T.M., Allison,M.A.,
Redline,S., Buxbaum,S.G., Mohlke,K.L., Meulenbelt,I.,
Ballantyne,C.M., Dedoussis,G.V., Hu,F.B., Liu,Y., Paulweber,B.,
Spector,T.D., Slagboom,P.E., Ferrucci,L., Jula,A., Perola,M.,
Raitakari,O., Florez,J.C., Salomaa,V., Eriksson,J.G.,
Frayling,T.M., Hicks,A.A., Lehtimaki,T., Smith,G.D.,
Siscovick,D.S., Kronenberg,F., van Duijn,C., Loos,R.J.,
Waterworth,D.M., Meigs,J.B., Dupuis,J., Richards,J.B., Voight,B.F.,
Scott,L.J., Steinthorsdottir,V., Dina,C., Welch,R.P., Zeggini,E.,
Huth,C., Aulchenko,Y.S., Thorleifsson,G., McCulloch,L.J.,
Ferreira,T., Grallert,H., Amin,N., Wu,G., Willer,C.J.,
Raychaudhuri,S., McCarroll,S.A., Hofmann,O.M., Segre,A.V., van
Hoek,M., Navarro,P., Ardlie,K., Balkau,B., Benediktsson,R.,
Bennett,A.J., Blagieva,R., Boerwinkle,E., Bonnycastle,L.L.,
Bostrom,K.B., Bravenboer,B., Bumpstead,S., Burtt,N.P.,
Charpentier,G., Chines,P.S., Cornelis,M., Crawford,G., Doney,A.S.,
Elliott,K.S., Elliott,A.L., Erdos,M.R., Fox,C.S., Franklin,C.S.,
Ganser,M., Gieger,C., Grarup,N., Green,T., Griffin,S., Groves,C.J.,
Guiducci,C., Hadjadj,S., Hassanali,N., Herder,C., Isomaa,B.,
Jackson,A.U., Johnson,P.R., Jorgensen,T., Kao,W.H., Kong,A.,
Kraft,P., Kuusisto,J., Lauritzen,T., Li,M., Lieverse,A.,
Lindgren,C.M., Lyssenko,V., Marre,M., Meitinger,T., Midthjell,K.,
Morken,M.A., Narisu,N., Nilsson,P., Owen,K.R., Payne,F.,
Petersen,A.K., Platou,C., Proenca,C., Prokopenko,I., Rathmann,W.,
Rayner,N.W., Robertson,N.R., Rocheleau,G., Roden,M., Sampson,M.J.,
Saxena,R., Shields,B.M., Shrader,P., Sigurdsson,G., Sparso,T.,
Strassburger,K., Stringham,H.M., Sun,Q., Swift,A.J., Thorand,B.,
Tichet,J., Tuomi,T., van Dam,R.M., van Haeften,T.W., van Herpt,T.,
van Vliet-Ostaptchouk,J.V., Walters,G.B., Weedon,M.N., Wijmenga,C.,
Witteman,J., Bergman,R.N., Cauchi,S., Collins,F.S., Gloyn,A.L.,
Gyllensten,U., Hansen,T., Hide,W.A., Hitman,G.A., Hofman,A.,
Hunter,D.J., Hveem,K., Laakso,M., Morris,A.D., Palmer,C.N.,
Rudan,I., Sijbrands,E., Stein,L.D., Tuomilehto,J., Uitterlinden,A.,
Walker,M., Watanabe,R.M., Abecasis,G.R., Boehm,B.O., Campbell,H.,
Daly,M.J., Hattersley,A.T., Pedersen,O., Barroso,I., Groop,L.,
Sladek,R., Thorsteinsdottir,U., Wilson,J.F., Illig,T., Froguel,P.,
van Duijn,C.M., Stefansson,K., Altshuler,D., Boehnke,M.,
McCarthy,M.I., Soranzo,N., Wheeler,E., Glazer,N.L.,
Bouatia-Naji,N., Magi,R., Randall,J., Elliott,P., Rybin,D.,
Dehghan,A., Hottenga,J.J., Song,K., Goel,A., Lajunen,T., Doney,A.,
Cavalcanti-Proenca,C., Kumari,M., Timpson,N.J., Zabena,C.,
Ingelsson,E., An,P., O'Connell,J., Luan,J., Elliott,A.,
McCarroll,S.A., Roccasecca,R.M., Pattou,F., Sethupathy,P.,
Ariyurek,Y., Barter,P., Beilby,J.P., Ben-Shlomo,Y., Bergmann,S.,
Bochud,M., Bonnefond,A., Borch-Johnsen,K., Bottcher,Y., Brunner,E.,
Bumpstead,S.J., Chen,Y.D., Chines,P., Clarke,R., Coin,L.J.,
Cooper,M.N., Crisponi,L., Day,I.N., de Geus,E.J., Delplanque,J.,
Fedson,A.C., Fischer-Rosinsky,A., Forouhi,N.G., Franzosi,M.G.,
Galan,P., Goodarzi,M.O., Graessler,J., Grundy,S., Gwilliam,R.,
Hallmans,G., Hammond,N., Han,X., Hartikainen,A.L., Hayward,C.,
Heath,S.C., Hercberg,S., Hillman,D.R., Hingorani,A.D., Hui,J.,
Hung,J., Kaakinen,M., Kaprio,J., Kesaniemi,Y.A., Kivimaki,M.,
Knight,B., Koskinen,S., Kovacs,P., Kyvik,K.O., Lathrop,G.M.,
Lawlor,D.A., Le Bacquer,O., Lecoeur,C., Li,Y., Mahley,R.,
Mangino,M., Martinez-Larrad,M.T., McAteer,J.B., McPherson,R.,
Meisinger,C., Melzer,D., Meyre,D., Mitchell,B.D., Mukherjee,S.,
Naitza,S., Neville,M.J., Orru,M., Pakyz,R., Paolisso,G.,
Pattaro,C., Pearson,D., Peden,J.F., Pedersen,N.L., Pfeiffer,A.F.,
Pichler,I., Polasek,O., Posthuma,D., Potter,S.C., Pouta,A.,
Province,M.A., Rayner,N.W., Rice,K., Ripatti,S., Rivadeneira,F.,
Rolandsson,O., Sandbaek,A., Sandhu,M., Sanna,S., Sayer,A.A.,
Scheet,P., Seedorf,U., Sharp,S.J., Shields,B., Sigurethsson,G.,
Sijbrands,E.J., Silveira,A., Simpson,L., Singleton,A., Smith,N.L.,
Sovio,U., Swift,A., Syddall,H., Syvanen,A.C., Tonjes,A.,
Uitterlinden,A.G., van Dijk,K.W., Varma,D., Visvikis-Siest,S.,
Vitart,V., Vogelzangs,N., Waeber,G., Wagner,P.J., Walley,A.,
Ward,K.L., Watkins,H., Wild,S.H., Willemsen,G., Witteman,J.C.,
Yarnell,J.W., Zelenika,D., Zethelius,B., Zhai,G., Zhao,J.H.,
Zillikens,M.C., Borecki,I.B., Meneton,P., Magnusson,P.K.,
Nathan,D.M., Williams,G.H., Silander,K., Bornstein,S.R.,
Schwarz,P., Spranger,J., Karpe,F., Shuldiner,A.R., Cooper,C.,
Serrano-Rios,M., Lind,L., Palmer,L.J., Hu,F.B. I, Franks,P.W.,
Ebrahim,S., Marmot,M., Kao,W.H., Pramstaller,P.P., Wright,A.F.,
Stumvoll,M., Hamsten,A., Buchanan,T.A., Valle,T.T., Rotter,J.I.,
Penninx,B.W., Boomsma,D.I., Cao,A., Scuteri,A., Schlessinger,D.,
Uda,M., Ruokonen,A., Jarvelin,M.R., Peltonen,L., Mooser,V.,
Sladek,R., Musunuru,K., Smith,A.V., Edmondson,A.C., Stylianou,I.M.,
Koseki,M., Pirruccello,J.P., Chasman,D.I., Johansen,C.T.,
Fouchier,S.W., Peloso,G.M., Barbalic,M., Ricketts,S.L., Bis,J.C.,
Feitosa,M.F., Orho-Melander,M., Melander,O., Li,X., Li,M.,
Cho,Y.S., Go,M.J., Kim,Y.J., Lee,J.Y., Park,T., Kim,K., Sim,X.,
Ong,R.T., Croteau-Chonka,D.C., Lange,L.A., Smith,J.D., Ziegler,A.,
Zhang,W., Zee,R.Y., Whitfield,J.B., Thompson,J.R., Surakka,I.,
Spector,T.D., Smit,J.H., Sinisalo,J., Scott,J., Saharinen,J.,
Sabatti,C., Rose,L.M., Roberts,R., Rieder,M., Parker,A.N., Pare,G.,
O'Donnell,C.J., Nieminen,M.S., Nickerson,D.A., Montgomery,G.W.,
McArdle,W., Masson,D., Martin,N.G., Marroni,F., Lucas,G., Luben,R.,
Lokki,M.L., Lettre,G., Launer,L.J., Lakatta,E.G., Laaksonen,R.,
Kyvik,K.O., Konig,I.R., Khaw,K.T., Kaplan,L.M., Johansson,A.,
Janssens,A.C., Igl,W., Hovingh,G.K., Hengstenberg,C.,
Havulinna,A.S., Hastie,N.D., Harris,T.B., Haritunians,T.,
Hall,A.S., Groop,L.C., Gonzalez,E., Freimer,N.B., Erdmann,J.,
Ejebe,K.G., Doring,A., Dominiczak,A.F., Demissie,S., Deloukas,P.,
de Faire,U., Crawford,G., Chen,Y.D., Caulfield,M.J.,
Boekholdt,S.M., Assimes,T.L., Quertermous,T., Seielstad,M.,
Wong,T.Y., Tai,E.S., Feranil,A.B., Kuzawa,C.W., Taylor,H.A. Jr.,
Gabriel,S.B., Holm,H., Gudnason,V., Krauss,R.M., Ordovas,J.M.,
Munroe,P.B., Kooner,J.S., Tall,A.R., Hegele,R.A., Kastelein,J.J.,
Schadt,E.E., Strachan,D.P., Reilly,M.P., Samani,N.J., Schunkert,H.,
Cupples,L.A., Sandhu,M.S., Ridker,P.M., Rader,D.J. and
Kathiresan,S.
CONSRTM DIAGRAM+ Consortium; MAGIC Consortium; GLGC Investigators; MuTHER
Consortium; DIAGRAM Consortium; GIANT Consortium; Global B Pgen
Consortium; Procardis Consortium; MAGIC investigators; GLGC
Consortium
TITLE Novel loci for adiponectin levels and their influence on type 2
diabetes and metabolic traits: a multi-ethnic meta-analysis of
45,891 individuals
JOURNAL PLoS Genet. 8 (3), E1002607 (2012)
PUBMED 22479202
REFERENCE 3 (bases 1 to 6550)
AUTHORS Kwong,C., Gilman-Sachs,A. and Beaman,K.
TITLE Tumor-associated a2 vacuolar ATPase acts as a key mediator of
cancer-related inflammation by inducing pro-tumorigenic properties
in monocytes
JOURNAL J. Immunol. 186 (3), 1781-1789 (2011)
PUBMED 21178005
REMARK GeneRIF: A mechanism is described by which tumor-associated
macrophages mature via a nontraditional cytokine-like signal, the
a2NTD peptide.
REFERENCE 4 (bases 1 to 6550)
AUTHORS Merkulova,M., McKee,M., Dip,P.V., Gruber,G. and Marshansky,V.
TITLE N-terminal domain of the V-ATPase a2-subunit displays integral
membrane protein properties
JOURNAL Protein Sci. 19 (10), 1850-1862 (2010)
PUBMED 20669186
REMARK GeneRIF: Data show that the V-ATPase a2-subunit might actually be
embedded into and/or closely associated with membrane phospholipids
even in the absence of any obvious predicted transmembrane
segments.
REFERENCE 5 (bases 1 to 6550)
AUTHORS Merkulova,M., Bakulina,A., Thaker,Y.R., Gruber,G. and Marshansky,V.
TITLE Specific motifs of the V-ATPase a2-subunit isoform interact with
catalytic and regulatory domains of ARNO
JOURNAL Biochim. Biophys. Acta 1797 (8), 1398-1409 (2010)
PUBMED 20153292
REMARK GeneRIF: Specific motifs of the V-ATPase a2-subunit isoform
interact with catalytic and regulatory domains of ARNO.
REFERENCE 6 (bases 1 to 6550)
AUTHORS Smith,A.N., Lovering,R.C., Futai,M., Takeda,J., Brown,D. and
Karet,F.E.
TITLE Revised nomenclature for mammalian vacuolar-type H+ -ATPase subunit
genes
JOURNAL Mol. Cell 12 (4), 801-803 (2003)
PUBMED 14580332
REFERENCE 7 (bases 1 to 6550)
AUTHORS Kawasaki-Nishi,S., Nishi,T. and Forgac,M.
TITLE Proton translocation driven by ATP hydrolysis in V-ATPases
JOURNAL FEBS Lett. 545 (1), 76-85 (2003)
PUBMED 12788495
REMARK Review article
REFERENCE 8 (bases 1 to 6550)
AUTHORS Nishi,T. and Forgac,M.
TITLE The vacuolar (H+)-ATPases--nature's most versatile proton pumps
JOURNAL Nat. Rev. Mol. Cell Biol. 3 (2), 94-103 (2002)
PUBMED 11836511
REMARK Review article
REFERENCE 9 (bases 1 to 6550)
AUTHORS Lee,C., Ghoshal,K. and Beaman,K.D.
TITLE Cloning of a cDNA for a T cell produced molecule with a putative
immune regulatory role
JOURNAL Mol. Immunol. 27 (11), 1137-1144 (1990)
PUBMED 2247090
REFERENCE 10 (bases 1 to 6550)
AUTHORS Dautry-Varsat,A.
TITLE Receptor-mediated endocytosis: the intracellular journey of
transferrin and its receptor
JOURNAL Biochimie 68 (3), 375-381 (1986)
PUBMED 2874839
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC068531.1, DA737084.1,
BI562012.1, AC117503.8 and R51339.1.
This sequence is a reference standard in the RefSeqGene project.
On Jul 24, 2009 this sequence version replaced gi:42741678.
Summary: The protein encoded by this gene is a subunit of the
vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is
present in intracellular vesicles and in the plasma membrane of
specialized cells, and which is essential for the acidification of
diverse cellular components. V-ATPase is comprised of a membrane
peripheral V(1) domain for ATP hydrolysis, and an integral membrane
V(0) domain for proton translocation. The subunit encoded by this
gene is a component of the V(0) domain. Mutations in this gene are
a cause of both cutis laxa type II and wrinkly skin syndrome.
[provided by RefSeq, Jul 2009].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BC068531.1, AK289391.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025083, ERS025084 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-673 BC068531.1 1-673
674-719 DA737084.1 217-262
720-1762 BC068531.1 720-1762
1763-1856 BI562012.1 532-625
1857-3060 BC068531.1 1857-3060
3061-6356 AC117503.8 64940-68235 c
6357-6550 R51339.1 1-194 c
FEATURES Location/Qualifiers
source 1..6550
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q24.31"
gene 1..6550
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/note="ATPase, H+ transporting, lysosomal V0 subunit a2"
/db_xref="GeneID:23545"
/db_xref="HGNC:18481"
/db_xref="HPRD:16521"
/db_xref="MIM:611716"
exon 1..365
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 27
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:71458814"
misc_feature 177..179
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/note="upstream in-frame stop codon"
variation 235
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139320"
CDS 249..2819
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/EC_number="3.6.3.6"
/note="v-type proton ATPase 116 kDa subunit a; v-ATPase
116 kDa; vacuolar proton translocating ATPase 116 kDa
subunit a; A2V-ATPase; regeneration and tolerance factor;
lysosomal H(+)-transporting ATPase V0 subunit a2"
/codon_start=1
/product="V-type proton ATPase 116 kDa subunit a isoform
2"
/protein_id="NP_036595.2"
/db_xref="GI:42741679"
/db_xref="CCDS:CCDS9254.1"
/db_xref="GeneID:23545"
/db_xref="HGNC:18481"
/db_xref="HPRD:16521"
/db_xref="MIM:611716"
/translation="
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLEVELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLINQGKVEAFEKMLWRVCKGYTIVSYAELDESLEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMCSFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNIIPTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFVMFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFGSGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVFRGPYPLGIDPIWNLATNRLTFLNSFKMKMSVILGIIHMTFGVILGIFNHLHFRKKFNIYLVSIPELLFMLCIFGYLIFMIFYKWLVFSAETSRVAPSILIEFINMFLFPASKTSGLYTGQEYVQRVLLVVTALSVPVLFLGKPLFLLWLHNGRSCFGVNRSGYTLIRKDSEEEVSLLGSQDIEEGNHQVEDGCREMACEEFNFGEILMTQVIHSIEYCLGCISNTASYLRLWALSLAHAQLSDVLWAMLMRVGLRVDTTYGVLLLLPVIALFAVLTIFILLIMEGLSAFLHAIRLHWVEFQNKFYVGAGTKFVPFSFSLLSSKFNNDDSVA
"
misc_feature 324..2765
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/note="V-type ATPase 116kDa subunit family; Region:
V_ATPase_I; pfam01496"
/db_xref="CDD:144913"
misc_feature 777..779
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1428..1484
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 1491..1541
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 1584..1673
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 1896..1955
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 2010..2072
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 2202..2261
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 2331..2333
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q9Y487.2); phosphorylation site"
misc_feature 2331..2333
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2358..2360
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2466..2540
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
misc_feature 2604..2720
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y487.2);
transmembrane region"
variation 285
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:375535547"
exon 366..444
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 398
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201451794"
variation 429
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:200646099"
variation 435
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:80356750"
exon 445..542
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 482
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375372808"
variation 485
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369978210"
variation 508
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372988817"
variation 511
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199633614"
variation 512
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:139785866"
exon 543..680
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 557
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:144499089"
variation 564
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377601811"
variation 601..602
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="tg"
/db_xref="dbSNP:80356752"
variation 621
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:140223278"
variation 636
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199801221"
variation 654
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:202106256"
variation 670
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:143509747"
variation 674
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:1139789"
exon 681..769
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 695
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140835376"
variation 704
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:371147164"
variation 705
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:150127945"
variation 719
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:1399961"
variation 763
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142935490"
variation 769
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147005791"
exon 770..896
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 794..795
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="g"
/db_xref="dbSNP:35628754"
variation 847
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371858595"
variation 851
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:181112338"
variation 862
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:143802431"
variation 869
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374338507"
exon 897..979
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 969
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:371794684"
exon 980..1073
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 992
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144293398"
variation 1012
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369952560"
variation 1016
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373419502"
variation 1017
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:116343742"
variation 1021
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141467923"
variation 1024
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:377561982"
variation 1025
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:73420336"
variation 1027
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199578524"
variation 1039
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201247720"
exon 1074..1286
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 1074
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374546165"
variation 1087
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="c"
/db_xref="dbSNP:80356754"
variation 1088
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139680786"
variation 1110
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144540962"
variation 1112
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:146627994"
variation 1115
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:79544838"
variation 1119
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:77566350"
variation 1124
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139111126"
variation 1125
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368924297"
variation 1131
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371533517"
variation 1202
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:75746974"
variation 1235
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:376626151"
variation 1241
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367873118"
variation 1242
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144949442"
variation 1263
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200463200"
variation 1264
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:74922060"
variation 1267
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:188879714"
variation 1286
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147411055"
exon 1287..1437
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 1305
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374873455"
variation 1309
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:375589198"
variation 1317
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:146967928"
variation 1344
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:372416067"
variation 1347
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:147833091"
variation 1354
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141310219"
variation 1360
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:199698721"
variation 1368
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201857139"
variation 1369
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:79134187"
variation 1376
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138172178"
variation 1377
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370299179"
variation 1405
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:373387853"
variation 1418
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:141843766"
variation 1437
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:372852652"
exon 1438..1574
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 1452
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150180405"
variation 1460
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:370742954"
variation 1506
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:138716143"
variation 1572
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:80356755"
exon 1575..1762
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 1586
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149386812"
variation 1600
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:144722947"
variation 1658
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139718448"
variation 1685
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199966807"
variation 1687
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371291658"
variation 1705
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201271558"
variation 1706
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:146156426"
variation 1734
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:143142641"
variation 1743..1745
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="aag"
/db_xref="dbSNP:377565103"
exon 1763..1853
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 1763
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:7135542"
variation 1769
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:142454880"
variation 1772
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:182439983"
variation 1773
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:148263447"
variation 1785
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:368098080"
variation 1806
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:200768640"
variation 1813
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371908109"
variation 1838
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:80355657"
exon 1854..1972
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 1872
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:150520079"
variation 1908
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:375553582"
variation 1911
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:368905954"
variation 1913
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373155729"
variation 1914
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:139454557"
variation 1946
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:2271659"
exon 1973..2183
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 2014
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149700024"
variation 2015
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:147789698"
variation 2079
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:141345960"
variation 2120
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:73420342"
variation 2177
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="a"
/db_xref="dbSNP:80356756"
variation 2182
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200340802"
exon 2184..2303
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 2218
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:147641581"
variation 2219
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:149123235"
variation 2229
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:143178672"
variation 2253
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:374410950"
variation 2262
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367950442"
variation 2271
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:75755543"
variation 2280
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148307049"
variation 2291
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:202084330"
variation 2302
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7969410"
exon 2304..2423
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 2312
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:200956453"
variation 2320
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144946016"
variation 2337
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:193006423"
variation 2375
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:145709161"
variation 2399
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:138276982"
variation 2416
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:201325140"
variation 2417
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:200269025"
exon 2424..2541
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 2450
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:181272292"
variation 2477
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150508296"
variation 2478
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146137462"
variation 2486
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138886791"
variation 2537
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:371306895"
variation 2541
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:80356758"
exon 2542..2713
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 2550
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:367543008"
variation 2556
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:149439834"
variation 2576
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:369531868"
variation 2578
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:144828090"
variation 2588
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201694504"
variation 2606
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:199720540"
variation 2607
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374221951"
variation 2614
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:148617403"
variation 2615
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:142041624"
variation 2618
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:147380366"
variation 2632
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:139509075"
variation 2650
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:145125816"
variation 2669..2670
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="ca"
/db_xref="dbSNP:80356757"
variation 2686
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:17883456"
variation 2687
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200933894"
variation 2697
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:201598201"
exon 2714..6542
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/inference="alignment:Splign:1.39.8"
variation 2738
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377725348"
variation 2763
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:140818195"
variation 2786
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:371549721"
variation 2797
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:75279884"
variation 2801
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:373576446"
variation 2832
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:200014054"
variation 2855
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:371405262"
variation 2934
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:367543009"
variation 3000
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374235976"
variation 3010
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150408179"
variation 3023
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="t"
/db_xref="dbSNP:112791053"
polyA_site 3060
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
variation 3201
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:370520714"
variation 3284
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:138190279"
variation 3311..3312
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="t"
/db_xref="dbSNP:71794123"
variation 3393
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:112521789"
variation 3462
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:377386130"
variation 3507
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:370873465"
variation 3516
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:201281979"
variation 3604
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:146660715"
variation 3816
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:374608361"
variation 3817
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:12298446"
variation 3863
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:75507657"
variation 3883
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7980215"
variation 3941
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:3827881"
variation 3947
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:10744162"
variation 4024
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:6488903"
variation 4071
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:141136421"
variation 4273
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:3748272"
variation 4291
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:150723707"
variation 4399
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:185122560"
variation 4419
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:58028686"
variation 4439
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:189881056"
variation 4464
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:74994957"
variation 4512
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:10846553"
STS 4513..4682
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/standard_name="RH92322"
/db_xref="UniSTS:92984"
variation 4550
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:114514797"
variation 4559
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:182646256"
polyA_signal 4561..4566
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
polyA_site 4580
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
variation 4622
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:117646592"
polyA_signal 4654..4659
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
variation 4656
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:115183932"
polyA_site 4681
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
variation 4693
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:114009690"
variation 4694
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:372872155"
variation 4904
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:185883563"
variation 4940
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:369563085"
variation 4946..4947
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="ca"
/db_xref="dbSNP:150303181"
variation 4956
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:191518337"
variation 4972
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:183540292"
variation 5132
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:115105206"
variation 5148
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:113118376"
variation 5159..5160
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace=""
/replace="gt"
/db_xref="dbSNP:377672185"
variation 5172
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="g"
/replace="t"
/db_xref="dbSNP:74386589"
variation 5176
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:117222175"
variation 5225
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:12368797"
variation 5297
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:188468645"
variation 5304
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:144043973"
variation 5403
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:58888228"
variation 5437
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:193208741"
variation 5465
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:77292614"
variation 5529
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:145999411"
variation 5601
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:183280767"
variation 5611
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:186629315"
variation 5652
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:117111955"
variation 5687
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:139941180"
variation 5694
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:149741581"
variation 5695
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:191476665"
variation 5696
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="t"
/db_xref="dbSNP:77765053"
variation 5748
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:145602576"
STS 5766..5835
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
variation 5819
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:183891010"
variation 5986
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:112529654"
variation 6046
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:111540619"
variation 6054
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:7310965"
variation 6121
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:189971467"
variation 6176
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="g"
/db_xref="dbSNP:7297473"
variation 6244
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="c"
/replace="t"
/db_xref="dbSNP:2333834"
variation 6372
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:73420351"
STS 6392..6523
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/standard_name="WI-13960"
/db_xref="UniSTS:77525"
variation 6422
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:73420352"
variation 6473
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="g"
/db_xref="dbSNP:77670478"
variation 6484
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
/replace="a"
/replace="c"
/db_xref="dbSNP:2651"
polyA_signal 6519..6524
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
polyA_site 6542
/gene="ATP6V0A2"
/gene_synonym="A2; ARCL; ARCL2A; ATP6A2; ATP6N1D; J6B7;
RTF; STV1; TJ6; TJ6M; TJ6S; VPH1; WSS"
ORIGIN
gggggcggaaccggaaccggcagtggcttgggggcgggacctcgcggactgctgtggcggcagctggagcggcggccgcggtggcagaaccgggggcggccgctgcagtctggagccccatagtgcggggccgcggccaggccacaggaagagctcgaggcccgggccgcaccggctgagtgtgcgggcccgcgcggctcggagccgccgccgcccatcgagcccctccgggcgcgggtcggcccgccatggggtccctgttccggagcgagaccatgtgcctggcgcagctcttcctgcagtcgggcacggcctacgagtgcctcagcgccctgggcgagaaaggcctggtccagttccgagacctcaaccagaacgtaagttctttccaaagaaaatttgttggtgaggtgaagaggtgtgaagagctagagcgaatattggtgtatttggtacaggaaattaatagagctgatattccccttcctgaaggagaggccagccctcctgcgccacccctgaaacaggttctagaaatgcaggagcagttgcagaagctcgaggttgaactgagagaagtcactaagaacaaggagaaactgaggaaaaacttgctggaactgatagagtacactcacatgctgagagtgacaaagacctttgtgaaacgcaatgttgagtttgaacccacttatgaagaattcccttccttagagagtgattctttgttggattacagctgtatgcagaggctgggagcaaaactgggatttgtgtctggcctaattaaccaaggaaaagtggaagcatttgaaaaaatgttgtggagagtctgcaaagggtacaccatcgtgtcctatgcagaactggatgaatcccttgaagaccctgaaacaggggaagtcataaaatggtatgtctttttaatatccttttggggagagcagattggccacaaggttaagaagatatgtgattgctaccactgccacgtgtacccctatccaaacacagccgaggagcggagggagatccaggaggggctgaacacccgcatccaggatctctacactgtactgcacaaaaccgaggactatttgaggcaagtgctatgtaaagccgccgagtctgtctacagccgtgtgatccaggtgaagaaaatgaaggccatctatcacatgctgaacatgtgcagctttgacgtgaccaacaagtgcctcattgctgaggtctggtgtcccgaggcggatctgcaggacctgcgccgggcactggaggagggctcgagagagagtggtgctacaatcccctcattcatgaatataatccccacaaaagaaacaccccccactcggatccgcaccaacaaattcaccgagggatttcagaacatcgtggatgcttatggagtcggaagctacagagaagtcaatccagctctctttaccatcatcaccttcccgtttttatttgctgtgatgtttggagacttcggacatggctttgtgatgtttttatttgccctcttgttggtgttaaatgaaaatcatcccagactaaatcagtcacaagagatcatgaggatgttttttaatggccggtacatcctcctgctgatggggctgttctcagtgtacactggcctcatctacaacgactgcttttcaaagtcagtcaacctgttcggctctgggtggaacgtgtcggccatgtacagctccagccacccacccgcagagcataagaagatggtgctttggaatgacagcgtcgttagacacaacagcattttgcagctggatccaagcattcctggagtgttccgaggcccttatccccttggcattgatcctatttggaacttggccacaaatcgcctcacttttctaaactctttcaaaatgaaaatgtccgtgattttaggaatcattcatatgacttttggagtcattctgggaatatttaaccacttgcacttcaggaagaagttcaacatttacctggtttccatcccggaacttctcttcatgctctgtatctttggataccttatatttatgattttctacaagtggctggttttttcagcagaaacctccagagttgctcccagcattctgattgaatttattaacatgtttttattcccagccagtaaaacaagtggcctttacacagggcaggagtatgtccagagagtgctgctggttgtcacagcattgtctgtccctgtcctcttcttgggaaagccactgtttttgttgtggcttcacaatgggcgtagttgcttcggggtgaaccggagtggctacacacttataaggaaagatagtgaggaagaagtttcattgctgggaagccaagatatagaagagggaaatcaccaggtggaagatggatgtagagaaatggcgtgtgaagagtttaattttggagaaatattaatgacccaagtaatccattccatcgagtactgtctgggatgcatctccaacaccgcctcctacctgaggctctgggcgcttagcctggctcacgcacagttgtctgatgtcctgtgggccatgctgatgcgcgtgggcctccgcgttgacaccacctatggcgtcttgctactgctcccggttatcgcgctctttgcagttttgaccattttcatccttctgatcatggaagggctttctgcgtttcttcacgccatacgcctccactgggtagaatttcagaacaaattctacgttggtgcaggcaccaaatttgttcctttctcattcagtctactttcatcaaagttcaataacgacgacagtgtggcatgatcatattgctgtaaccaacaagctttcagatttatggagaatgaccatgttatagactttcacttatgtcagatttatgataggaaaaattccatcttcattactgccttatgacatagccaaataattctgtaagatatacctcttcctcatatgttaaatattttgtaaagtttaccaatttgagatataaaaatttcttttggttttttatgatgagcaaatataagttaatgccaaacgttatgttaaagttattttttcaaatacaggatttggggagagaagccaattttgcatggctagttgaaaatggtattagatacttatttcctttaaactttatttaaaacaaacaacagagttaatctgtcacctgaagttgccagataatattttccaacagctgaagtagggatagttttttaaaaaatttaatgatgggtaatcaaaacattcacatttattctgctggatttaaaaatatgtactttttttttttttttgagatgaagtcttgctgtgtcacgtaggctggagtgcaatggcacgatcgtgtctcattgcaacttccgcctcctggattcaggtgattctcctgtctcagcctcccgagtaactgggattacaggcatgcgccaccgtgaccagctaatttttttgtatttttgtagagatggggtttcaccatgttggccaggctggtctcgaacttctgacctcaagtgatccacctgcctcggcctccctaagtgctgggattacaggcgtgagccaccatgcctggccaaaatatgcaaatattttttatcctgtgctacctagaattacaagtagaggattgtttttacaattttgtcttgttttagtaattggggacaatgggataaaatgacatacaacaaatggttatcccacttgtatatttttttaaagactcttatcctgttacccttacataaaaccagttatgataattgtatgtttggaagataaattgtatgctgagccttaaaacccagtgtgactgtagaagatataatgcggacatgatttgaatttagtgacagcttggctgatgtcactgaaccagaagggtttatactgagtgaaggaaaggtaaaaagtagtattttgtatatttttgtaacaaaatataaatgaagatattttaccatgaagagattgcacttatccttgagaacagtctaaatataaatgaagatattttaccatgaagagattgcacttatccttgagaacagtctaatgatactttttttactttcagactgtttctagctaaagttctgataaaagtattgagttaatttaaactttcaaacactgtttagatcagttgaaaactaattcttaatagccattgttttataatctttagtttaaattcatctgtttgacatttggttttttgtgaacttgagtcagtcctattgaacattttgacctatattcttgcaaattatgttaatttttcatattttagtttgattttagacaattattttcaaaaagaaacctgactttttttcaccttcttgacattgtgagtgatacacgttaaaaggctatttgcccgcatcctcctctatcctgtttcgaggtagagagcttggcacttctgttacaagctgagagtctggaggtgctgagtttaacgtggctgtgcagctgatttcaaggcatgagctgaacagcgttgacacagccgtgacttacaattaaaccctttcaattacagtacagattctgtgtgctacttgatgagatgttacccaaggccagtttggacttactgctttttgtccctcatattaaattatcaaatgatgccgatgaaatgcttgaaaatgattctgctctcaaagttatgcttccctagaaaggtgtcatgtcgggcacttgtgttgggtgactatgacatcccagcagtgctggtcaggtctcagagttgctttcacctagagctgatgcttccacaaggggacatttgtgttactttgctccaggggtctgtcataaaaacaatggtaactacttcatccctaggaagcccaagacttcagggcactgttagctgattggtaaataagggacacgatattcacgggaattgtttactgctccccactagtaattctcatggggccacttttttaactctttctaattaacacctcttctcagcatagagcagaggatgcagtcatttctctgttgaaatctatgtagtatttatgtagaatgtcattatatgaaaagcgaattcagaatcctaactctgggaaagcgctctctggaaatgtagtttgataatagtgtcttataggggccacgggaatttgtttctctataaagcgatgggctccagtgtcatgttaccagagttatcgctcagttttgtttgttaaggcttttgctagaacctattatgtatccagtttttaaaacatacttcattcccttgatagcagagatccagagcacagatggcaagttgtgtggatgatactgaatatgtttattttcctaaagataaatgtcacgacacgacatttctcagtttttatttagatgtttattaccatgtgttaacagaatcttaaaacccaagggatttcttcagtaaactagactttgattcaacctgctgggctggagactgtaattgccgtggtcagttaaggagtgcaaagggtgttctgtctgataggatctgggtgagccctgcggactttccagcagcgaaaggacttggaactcctctttcgctgaatgctgctctgtttctggaatggatattttataacaacattctggtgtcagcatcccctcagcagttgtttatttaaaaatttttttattttttttgagacagtgtctcactctgtcacctaggctgaagtgcagtggtgcagtctcggctcactgcaacctctgcctcctgggtttaagcaattctcctgccctagcctcccgagtagctgggattacaggcgcctgccacagtgcccggctaatttttgtatttttagtagagacagggtttcaccatgttggccaggctggtctcaaactcctgacctcaggtgatctacccaccttggcctcccaaagtgctgggattacaggcgtgagccaccgcgcctggccctctgcagttgtttaataaggcacagaatacctgtagcataggtcagccttacgatgtccatgaattacatattcagacgttttagagcctgatacattttggaaaagaaaaacaacttctacacctattctacagtccgcatttaaaacaataaattcctctattaaaaacgtaaagccgggtttgcttgcgtgccacagggaatatatccaggaaggttattatgaagctgtcaaatcaagatgatgggaataaggcagtttgaacgaacagtcttcccacagtcaggccatttttgctgatttggtttagaattttcagaaatacttagtacactccacctgttctttgatgggaatatctaagaaggctaggtaggttcttagggttagcctgagtcatctaggggctcaactccttgtgaggggaaatgacagtgaacaagttagtactttgctccacaaatgcatgaaaggacaaatttgcatcttctatcagtatttaacttccttttgctaatgacaaataaatatatctatatttttaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23545 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:23545 -> Molecular function: GO:0015078 [hydrogen ion transmembrane transporter activity] evidence: IEA
GeneID:23545 -> Biological process: GO:0006879 [cellular iron ion homeostasis] evidence: TAS
GeneID:23545 -> Biological process: GO:0006955 [immune response] evidence: TAS
GeneID:23545 -> Biological process: GO:0008286 [insulin receptor signaling pathway] evidence: TAS
GeneID:23545 -> Biological process: GO:0015991 [ATP hydrolysis coupled proton transport] evidence: IEA
GeneID:23545 -> Biological process: GO:0033572 [transferrin transport] evidence: TAS
GeneID:23545 -> Biological process: GO:0051701 [interaction with host] evidence: TAS
GeneID:23545 -> Biological process: GO:0055085 [transmembrane transport] evidence: TAS
GeneID:23545 -> Biological process: GO:0090382 [phagosome maturation] evidence: TAS
GeneID:23545 -> Cellular component: GO:0000220 [vacuolar proton-transporting V-type ATPase, V0 domain] evidence: IEA
GeneID:23545 -> Cellular component: GO:0001669 [acrosomal vesicle] evidence: IEA
GeneID:23545 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:23545 -> Cellular component: GO:0005886 [plasma membrane] evidence: IDA
GeneID:23545 -> Cellular component: GO:0010008 [endosome membrane] evidence: TAS
GeneID:23545 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
GeneID:23545 -> Cellular component: GO:0030670 [phagocytic vesicle membrane] evidence: TAS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_036595 -> EC 3.6.3.6
by
@meso_cacase at
DBCLS
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