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2025-05-09 16:57:12, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012233 4918 bp mRNA linear PRI 12-MAY-2013
DEFINITION Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic)
(RAB3GAP1), transcript variant 2, mRNA.
ACCESSION NM_012233
VERSION NM_012233.2 GI:289547210
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 4918)
AUTHORS Handley,M.T. and Aligianis,I.A.
TITLE RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf
syndromes
JOURNAL Biochem. Soc. Trans. 40 (6), 1394-1397 (2012)
PUBMED 23176487
REMARK GeneRIF: Micro syndrome has been associated with causative
mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18.
Martsolf syndrome has been associated with a mutation in
RAB3GAP2.[Review]
Review article
REFERENCE 2 (bases 1 to 4918)
AUTHORS Li,X., Bykhovskaya,Y., Haritunians,T., Siscovick,D., Aldave,A.,
Szczotka-Flynn,L., Iyengar,S.K., Rotter,J.I., Taylor,K.D. and
Rabinowitz,Y.S.
TITLE A genome-wide association study identifies a potential novel gene
locus for keratoconus, one of the commonest causes for corneal
transplantation in developed countries
JOURNAL Hum. Mol. Genet. 21 (2), 421-429 (2012)
PUBMED 21979947
REFERENCE 3 (bases 1 to 4918)
AUTHORS Yildirim,M.S., Zamani,A.G. and Bozkurt,B.
TITLE Warburg micro syndrome in two children from a highly inbred Turkish
family
JOURNAL Genet. Couns. 23 (2), 169-174 (2012)
PUBMED 22876574
REMARK GeneRIF: The RAB3GAP gene encodes a protein which is a key
regulator of the Rab3 pathway implicated in exocytic release of
ocular and neurodevleopmental trophic factors.
REFERENCE 4 (bases 1 to 4918)
AUTHORS Dursun,F., Guven,A. and Morris-Rosendahl,D.
TITLE Warburg Micro syndrome
JOURNAL J. Pediatr. Endocrinol. Metab. 25 (3-4), 379-382 (2012)
PUBMED 22768674
REMARK GeneRIF: Mutation in RAB3GAP1 is associated with warburg micro
syndrome.
REFERENCE 5 (bases 1 to 4918)
AUTHORS Teslovich,T.M., Musunuru,K., Smith,A.V., Edmondson,A.C.,
Stylianou,I.M., Koseki,M., Pirruccello,J.P., Ripatti,S.,
Chasman,D.I., Willer,C.J., Johansen,C.T., Fouchier,S.W., Isaacs,A.,
Peloso,G.M., Barbalic,M., Ricketts,S.L., Bis,J.C., Aulchenko,Y.S.,
Thorleifsson,G., Feitosa,M.F., Chambers,J., Orho-Melander,M.,
Melander,O., Johnson,T., Li,X., Guo,X., Li,M., Shin Cho,Y., Jin
Go,M., Jin Kim,Y., Lee,J.Y., Park,T., Kim,K., Sim,X., Twee-Hee
Ong,R., Croteau-Chonka,D.C., Lange,L.A., Smith,J.D., Song,K., Hua
Zhao,J., Yuan,X., Luan,J., Lamina,C., Ziegler,A., Zhang,W.,
Zee,R.Y., Wright,A.F., Witteman,J.C., Wilson,J.F., Willemsen,G.,
Wichmann,H.E., Whitfield,J.B., Waterworth,D.M., Wareham,N.J.,
Waeber,G., Vollenweider,P., Voight,B.F., Vitart,V.,
Uitterlinden,A.G., Uda,M., Tuomilehto,J., Thompson,J.R., Tanaka,T.,
Surakka,I., Stringham,H.M., Spector,T.D., Soranzo,N., Smit,J.H.,
Sinisalo,J., Silander,K., Sijbrands,E.J., Scuteri,A., Scott,J.,
Schlessinger,D., Sanna,S., Salomaa,V., Saharinen,J., Sabatti,C.,
Ruokonen,A., Rudan,I., Rose,L.M., Roberts,R., Rieder,M.,
Psaty,B.M., Pramstaller,P.P., Pichler,I., Perola,M., Penninx,B.W.,
Pedersen,N.L., Pattaro,C., Parker,A.N., Pare,G., Oostra,B.A.,
O'Donnell,C.J., Nieminen,M.S., Nickerson,D.A., Montgomery,G.W.,
Meitinger,T., McPherson,R., McCarthy,M.I., McArdle,W., Masson,D.,
Martin,N.G., Marroni,F., Mangino,M., Magnusson,P.K., Lucas,G.,
Luben,R., Loos,R.J., Lokki,M.L., Lettre,G., Langenberg,C.,
Launer,L.J., Lakatta,E.G., Laaksonen,R., Kyvik,K.O., Kronenberg,F.,
Konig,I.R., Khaw,K.T., Kaprio,J., Kaplan,L.M., Johansson,A.,
Jarvelin,M.R., Janssens,A.C., Ingelsson,E., Igl,W., Kees
Hovingh,G., Hottenga,J.J., Hofman,A., Hicks,A.A., Hengstenberg,C.,
Heid,I.M., Hayward,C., Havulinna,A.S., Hastie,N.D., Harris,T.B.,
Haritunians,T., Hall,A.S., Gyllensten,U., Guiducci,C., Groop,L.C.,
Gonzalez,E., Gieger,C., Freimer,N.B., Ferrucci,L., Erdmann,J.,
Elliott,P., Ejebe,K.G., Doring,A., Dominiczak,A.F., Demissie,S.,
Deloukas,P., de Geus,E.J., de Faire,U., Crawford,G., Collins,F.S.,
Chen,Y.D., Caulfield,M.J., Campbell,H., Burtt,N.P.,
Bonnycastle,L.L., Boomsma,D.I., Boekholdt,S.M., Bergman,R.N.,
Barroso,I., Bandinelli,S., Ballantyne,C.M., Assimes,T.L.,
Quertermous,T., Altshuler,D., Seielstad,M., Wong,T.Y., Tai,E.S.,
Feranil,A.B., Kuzawa,C.W., Adair,L.S., Taylor,H.A. Jr.,
Borecki,I.B., Gabriel,S.B., Wilson,J.G., Holm,H.,
Thorsteinsdottir,U., Gudnason,V., Krauss,R.M., Mohlke,K.L.,
Ordovas,J.M., Munroe,P.B., Kooner,J.S., Tall,A.R., Hegele,R.A.,
Kastelein,J.J., Schadt,E.E., Rotter,J.I., Boerwinkle,E.,
Strachan,D.P., Mooser,V., Stefansson,K., Reilly,M.P., Samani,N.J.,
Schunkert,H., Cupples,L.A., Sandhu,M.S., Ridker,P.M., Rader,D.J.,
van Duijn,C.M., Peltonen,L., Abecasis,G.R., Boehnke,M. and
Kathiresan,S.
TITLE Biological, clinical and population relevance of 95 loci for blood
lipids
JOURNAL Nature 466 (7307), 707-713 (2010)
PUBMED 20686565
REFERENCE 6 (bases 1 to 4918)
AUTHORS Rodriguez Criado,G., Rufo,M. and Gomez de Terreros,I.
TITLE A second family with Micro syndrome
JOURNAL Clin. Dysmorphol. 8 (4), 241-245 (1999)
PUBMED 10532171
REFERENCE 7 (bases 1 to 4918)
AUTHORS Oishi,H., Sasaki,T., Nagano,F., Ikeda,W., Ohya,T., Wada,M., Ide,N.,
Nakanishi,H. and Takai,Y.
TITLE Localization of the Rab3 small G protein regulators in nerve
terminals and their involvement in Ca2+-dependent exocytosis
JOURNAL J. Biol. Chem. 273 (51), 34580-34585 (1998)
PUBMED 9852129
REFERENCE 8 (bases 1 to 4918)
AUTHORS Nagano,F., Sasaki,T., Fukui,K., Asakura,T., Imazumi,K. and Takai,Y.
TITLE Molecular cloning and characterization of the noncatalytic subunit
of the Rab3 subfamily-specific GTPase-activating protein
JOURNAL J. Biol. Chem. 273 (38), 24781-24785 (1998)
PUBMED 9733780
REFERENCE 9 (bases 1 to 4918)
AUTHORS Fukui,K., Sasaki,T., Imazumi,K., Matsuura,Y., Nakanishi,H. and
Takai,Y.
TITLE Isolation and characterization of a GTPase activating protein
specific for the Rab3 subfamily of small G proteins
JOURNAL J. Biol. Chem. 272 (8), 4655-4658 (1997)
PUBMED 9030515
REFERENCE 10 (bases 1 to 4918)
AUTHORS Warburg,M., Sjo,O., Fledelius,H.C. and Pedersen,S.A.
TITLE Autosomal recessive microcephaly, microcornea, congenital cataract,
mental retardation, optic atrophy, and hypogenitalism. Micro
syndrome
JOURNAL Am. J. Dis. Child. 147 (12), 1309-1312 (1993)
PUBMED 8249951
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA333844.1, D31886.1 and
AC017031.10.
On Feb 24, 2010 this sequence version replaced gi:55743117.
Summary: This gene encodes the catalytic subunit of a Rab GTPase
activating protein. The encoded protein forms a heterodimer with a
non-catalytic subunit to specifically regulate the activity of
members of the Rab3 subfamily of small G proteins. This protein
mediates the hydrolysis of GTP bound Rab3 to the GDP bound form.
Mutations in this gene are associated with Warburg micro syndrome.
Alternate splicing results in multiple transcript
variants.[provided by RefSeq, Feb 2010].
Transcript Variant: This variant (2) lacks an in-frame exon in the
coding region, compared to variant 1. The encoded isoform (2) is
shorter than isoform 1.
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 :: D31886.1, AB449877.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-41 DA333844.1 1-41
42-3676 D31886.1 1-3635
3677-4918 AC017031.10 4187-5428
FEATURES Location/Qualifiers
source 1..4918
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q21.3"
gene 1..4918
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/note="RAB3 GTPase activating protein subunit 1
(catalytic)"
/db_xref="GeneID:22930"
/db_xref="HGNC:17063"
/db_xref="HPRD:16002"
/db_xref="MIM:602536"
exon 1..61
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 12
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200628274"
variation 31
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375796483"
variation 36
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:367986269"
variation 40
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202050016"
CDS 44..2989
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/note="isoform 2 is encoded by transcript variant 2;
rab3-GAP p130; RAB3 GTPase-activating protein 130 kDa
subunit"
/codon_start=1
/product="rab3 GTPase-activating protein catalytic subunit
isoform 2"
/protein_id="NP_036365.1"
/db_xref="GI:55743118"
/db_xref="CCDS:CCDS33294.1"
/db_xref="GeneID:22930"
/db_xref="HGNC:17063"
/db_xref="HPRD:16002"
/db_xref="MIM:602536"
/translation="
MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEEKSDEISFADFKFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVRWYGLREFVVIAPAAHSDAVLSESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGECQGPGVRTDFEMVHLRKVPNQYTHLSGLLDIFKSKIGCPLTPLPPVSIAIRFTYVLQDWQQYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELHLATTWPHLTEGIIVDNDVYSDLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAFEEEGKETADITHALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVSEKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHLWQEFVLEMRFRWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASDVTNIYPGDAGKAGDQLVPDNLKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQESGKKGGPKEMANLRPEGRLYQHGKLTLLHNGEPLYIPVTQEPAPMTEDLLEEQSEVLAKLGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVRWYSPRDYIEEEVIDEKGNVVLKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAIQKPADLARHLLPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVEALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVNAQRAAAMTPPEEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMYSVLTKEDFRLAGAFSSDTSFF
"
misc_feature 1772..1774
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1778..1780
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1784..1786
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1811..1813
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1865..2350
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/note="Rab3 GTPase-activating protein catalytic subunit;
Region: Rab3-GTPase_cat; pfam13890"
/db_xref="CDD:206061"
variation 51
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371637983"
exon 62..117
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 89
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141518860"
variation 111
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145829300"
exon 118..193
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 137
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:143078664"
variation 167
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372830337"
exon 194..326
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 213
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139464896"
variation 227
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:148441684"
variation 260
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:372673436"
variation 278
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200332256"
variation 283
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145219231"
variation 290
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:202184859"
exon 327..405
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 340
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200902906"
variation 344
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369370987"
variation 362
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151096019"
variation 400
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:73959261"
exon 406..525
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 416
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200250746"
variation 440
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371640817"
variation 454
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140929274"
variation 466
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145748693"
variation 469
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201758067"
variation 493
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373908112"
variation 517
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:180819794"
exon 526..691
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 553
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200315019"
variation 649
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145762340"
variation 653
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:149466854"
exon 692..791
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 712
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:76927619"
variation 744
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199513495"
variation 780
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372760255"
exon 792..873
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 855
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:191211045"
variation 859
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199898437"
variation 869
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150727606"
exon 874..942
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 889
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188770482"
variation 893
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148190655"
variation 922
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143547678"
variation 923
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377322603"
variation 925
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368785012"
exon 943..1016
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 956
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:116775947"
exon 1017..1109
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 1049
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150478342"
variation 1053
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:374385972"
variation 1084
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:77972211"
exon 1110..1279
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 1134
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146595043"
variation 1166
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372759264"
variation 1170
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200094211"
variation 1186
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145134603"
variation 1218
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201430480"
variation 1230
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:61748696"
variation 1269
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149010855"
exon 1280..1369
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 1287
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:200021685"
variation 1311
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:143010678"
variation 1312
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375809703"
variation 1317
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143478869"
variation 1327
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200945319"
variation 1350
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75269203"
variation 1368
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:114901298"
exon 1370..1542
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 1418
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:146045863"
variation 1450
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144654966"
variation 1453
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:267606996"
variation 1470
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144231223"
variation 1505
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146575990"
variation 1509
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200543595"
variation 1515
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:142396337"
variation 1539
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373494523"
exon 1543..1597
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 1581
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:112562432"
exon 1598..1966
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
STS 1636..1758
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/standard_name="RH25298"
/db_xref="UniSTS:70530"
variation 1718
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:140578891"
variation 1724
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200175711"
variation 1757
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:370638150"
variation 1762
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201394875"
variation 1770
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368383124"
variation 1777
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:137853053"
variation 1786
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200166273"
variation 1807
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370868041"
variation 1822
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375582251"
variation 1836
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:10445686"
variation 1863
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:186856679"
variation 1891
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368626850"
variation 1911
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372715948"
exon 1967..2104
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2035
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:7595725"
variation 2054
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:137853052"
variation 2084
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:144534253"
exon 2105..2332
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2118
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375099600"
variation 2157
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:367558491"
variation 2182
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376019553"
variation 2265
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:150586651"
variation 2272
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:369606881"
variation 2308
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:17261772"
variation 2322
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200499974"
exon 2333..2429
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2336
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141580332"
variation 2372
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139996349"
variation 2376
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146072589"
variation 2389
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:370264179"
exon 2430..2533
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2462
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148105837"
variation 2480
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200907583"
variation 2506
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61748693"
exon 2534..2649
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2567
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371275629"
variation 2582
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148557417"
variation 2620
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:200674508"
variation 2642
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375414016"
variation 2648
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145728829"
exon 2650..2752
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2660
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375263858"
variation 2719
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:144455066"
exon 2753..4918
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/inference="alignment:Splign:1.39.8"
variation 2764
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138004494"
variation 2809
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113103875"
variation 2811
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372552182"
variation 2825
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376647431"
variation 2833
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375847117"
variation 2842
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369057346"
variation 2843
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:77535003"
variation 2880
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373166726"
variation 2881
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138464557"
variation 2886
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199983133"
variation 2891
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200519153"
variation 2947
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146045827"
variation 2989
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141436429"
variation 2998
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377383603"
variation 3007
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202083403"
variation 3023
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201884884"
variation 3033
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369406767"
variation 3124
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:10170125"
variation 3153
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:80056711"
variation 3159
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:180839370"
variation 3160
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:11558413"
variation 3170
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371690596"
variation 3190
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:78044288"
variation 3241
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:7564565"
variation 3244..3245
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="g"
/db_xref="dbSNP:143703110"
variation 3244
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:7564566"
variation 3245..3246
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="g"
/replace="ggg"
/db_xref="dbSNP:3214779"
variation 3292
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:72980321"
variation 3302
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="g"
/replace="t"
/db_xref="dbSNP:139040603"
variation 3325
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:112136187"
variation 3334
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375006650"
variation 3337
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="c"
/db_xref="dbSNP:189516775"
variation 3338
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:111981151"
variation 3393
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149483456"
variation 3426
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181695291"
variation 3496
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:186189305"
variation 3620
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190513478"
variation 3730
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:149381237"
STS 3742..3866
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/standard_name="SHGC-31260"
/db_xref="UniSTS:31772"
variation 3828
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:372261698"
variation 3926
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="t"
/db_xref="dbSNP:71757791"
variation 3953
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:181952710"
variation 3967..3968
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="c"
/db_xref="dbSNP:370069043"
variation 3981
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11558414"
variation 3984
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116237324"
STS 4034..4176
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/standard_name="D2S2871"
/db_xref="UniSTS:11276"
variation 4066
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:16831395"
variation 4115
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:186292105"
variation 4183
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="a"
/db_xref="dbSNP:200869351"
variation 4183
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:199592452"
variation 4196..4197
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="aa"
/db_xref="dbSNP:71899713"
variation 4197..4199
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="ata"
/db_xref="dbSNP:74490004"
variation 4235
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:191219662"
variation 4243
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:113651023"
STS 4278..4462
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/standard_name="RH67847"
/db_xref="UniSTS:49267"
variation 4367
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:59746814"
variation 4386
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147177352"
variation 4461
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:182541151"
polyA_signal 4474..4479
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
polyA_site 4496
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
variation 4505..4513
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace=""
/replace="tttctttca"
/db_xref="dbSNP:200211652"
variation 4576
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373223565"
variation 4600
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="t"
/db_xref="dbSNP:188370805"
variation 4606
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140483004"
STS 4628..4736
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/standard_name="A008U03"
/db_xref="UniSTS:82818"
variation 4668
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369340827"
variation 4682
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:144378327"
STS 4762..4911
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/standard_name="WI-17012"
/db_xref="UniSTS:28796"
variation 4815
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="g"
/db_xref="dbSNP:114264557"
variation 4824
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372998834"
variation 4890
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377410397"
polyA_signal 4896..4901
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
variation 4909
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147828110"
polyA_site 4918
/gene="RAB3GAP1"
/gene_synonym="P130; RAB3GAP; RAB3GAP130; WARBM1"
ORIGIN
cttcttcccggcagccttagcgccaggcccggcgctcctcaagatggctgccgacagtgagcccgaatccgaggtatttgagatcacggacttcaccactgcctcggaatgggaaaggtttatttccaaagttgaagaagtcttgaatgactggaaactgattggaaactctttgggaaagccactcgaaaagggtatatttacttctggcacatgggaagagaaatcagatgaaatttcctttgctgacttcaagttctcagtcactcatcattatcttgtacaagagtccactgataaagaaggaaaggatgagttattagaggatgttgttccacaatctatgcaagatttgctgggtatgaataatgactttcctccaagagcacattgcctggtaagatggtatgggctacgtgagttcgtggtgattgcccctgctgcacacagtgacgctgttctcagcgaatctaagtgcaaccttcttctgagttctgtttctattgccttgggaaacactggctgtcaggtgccactctttgtgcaaattcaccacaaatggcgaagaatgtatgtaggagaatgtcaaggtcctggtgtacgaactgatttcgaaatggttcatcttagaaaagtgccaaatcagtacactcacttatcaggtctgctggatatcttcaaatcaaagattggatgtcctttaactccattgcctccagttagtattgctattcgatttacctatgtacttcaagattggcagcagtatttttggcctcagcaacctccagacatagatgcccttgtaggaggagaagttggaggcttggagtttggcaagttaccatttggtgcctgcgaagatcctattagtgaactccatttagctactacatggcctcatctgaccgaagggatcattgtggataatgatgtttattctgatttggatcctattcaagctccacattggtctgttagagttcgaaaagctgagaatcctcagtgtttgctaggtgattttgtcactgaattttttaaaatttgccgtcgaaaggagtcaactgatgagattcttggacgatctgcatttgaggaagaaggcaaagaaactgctgatataactcatgctttgtcaaaattgacagagccggcatcagttccaattcataaattatcagtttcaaatatggtacacactgcaaagaagaaaatccgaaaacacagaggtgtagaggagtcaccgctaaataatgatgttcttaatactattctcctgttcttattccctgatgctgtttctgagaaaccattagatggaactacttcaacagataataataatcctccatcagagagtgaagactataatctctacaatcagttcaagtctgcaccatctgacagtttaacatacaaactggctttgtgtctctgtatgatcaatttttaccatggagggttgaaaggagtggcacacctctggcaggaatttgttcttgaaatgcgtttccgatgggaaaacaactttctgattccaggattagcaagtggacccccagatctgaggtgttgtttactgcatcagaaactacagatgttaaattgttgtattgaaagaaagaaggcacgtgatgaggggaaaaagacaagtgcttcagatgtcactaatatatatccaggggatgctggaaaagcaggagaccagttggtgccagataatctaaaagaaacagataaggaaaagggagaggtaggaaaatcttgggattcctggagtgacagcgaagaagaattttttgaatgcctaagtgatactgaagaacttaaaggaaatggacaagagagtggcaagaaaggaggacctaaggagatggcaaatttaaggccggaaggacggctctatcagcatgggaaacttacactgctgcataatggagaacctctctacattccagtaacccaggaaccagcacctatgacagaagatctgctagaagagcagtctgaagttttagctaaattaggtacatcggcagagggggctcaccttcgagcacgcatgcagagtgcctgtctgctctcagatatggagtcttttaaggcagctaatccaggttgctccctggaagattttgtgaggtggtattcaccccgggattatattgaagaggaggtgattgatgaaaagggcaatgtggtgctgaaaggagaactgagtgcccggatgaagattccaagcaatatgtgggtagaagcctgggaaacagctaagccaattcctgctagaaggcaaaggagactctttgatgatacacgggaagcagaaaaggtgctgcactatctggcaatccagaaacctgcagaccttgctcggcacctgttaccttgtgtgattcatgcagctgtactcaaggtaaaggaagaagaaagtctcgaaaacatttcttcagttaagaagatcataaagcagataatatcccattccagtaaagttttgcacttccccaatccagaagacaagaaattggaagaaatcattcaccagattactaatgtggaagctctcattgccagagctcggtcactaaaagccaagtttggaactgagaaatgtgaacaggaggaggaaaaggaagatcttgaaaggtttgtgagttgcctgctggagcagcctgaagtgttagtcaccggtgcaggaagaggacatgctggcaggatcattcacaagctgtttgtgaatgcccagagggctgcagctatgactccaccagaggaggaattgaagagaatgggctccccagaggaaagaaggcagaactccgtgtcagacttcccaccccctgctggccgggaattcattttgcgcaccactgtgccgcgccctgctccctactccaaagctctgcctcagcggatgtacagtgttctcaccaaagaggactttagacttgcaggtgccttttcatcagatacttccttcttctgattcttctagcattactcgttggtggcttcagagacagtgctgcctcctcctgagggagggaaggtaccagggagaacctgggaggtcctggagagggccctgtccagttgggtgatcaggaatcaaaccagcatcggaaagacttcccagcaccaagcttgagctgtgtcgtttcgtggagggggcagcgaggatgggcttgagctgttgagagatttctgccctagagatggcctttgtatatgggggggtggtggggggacacaaacacatcagacactccgtcctcacactggcaggacggtgttcatcgcattctcttctgtgaccagcctctaggctagcggctgcattcgtggtctgtgcaaacacttcgtggttctatatatcagcagcaagtgtgcaaaataaaggacctgttaactcagatttctggatattttggtggtagcttctagtcccagaatctgtgtttttaaaatactacatgacattctgtctattcaatcacctggtggtcatctttcttgtactaattaactgttgatgagcattttggatattctaggagaaagcctataatttcacatagtttctctttttcatgtaactgtaacctaaatgtattacttctgataaaactatatatcaaatgtcactgcaaattagttttatatctgtcatgtgagatttgtcttacttatttttcttttggttgccatggaagttatggccctgaaaatcgtctccctccccttctcttgctgtacagcatgcgttctctttttgtggttgctggctgggtactgtatttaatgaagtagagaatagcacttgcaaaaatacagtcttggtacctagagactgtcatgcagatagtataatttggtatatgtgctaatgcattgagtagaggattattttaacacactattttgcttttgtattttagttaaaataatcgatggggatgtgtagcccccccgtgtgaggatgacatcaccacatttctagtttcatggagctcaagatgtcttgtgtctgtgtggctagatggcctctgcttggtaatcttatttttaggcctaaaattcccacttaaatccaaagtaaaaatggttatactgaagcataaaccttgcctgtgtaattttaaaaaattaatagagctgtgcaaaccctgttatttttgtaaaaaaaaaaaaaaatacatatctatatataatatgtgtgtgtgtgtgacatatgcacacgtctctgtgtatgtgaagtaggggaggccctgggggatgacctcccagcctttatgatgcttttctctatgctgctggacttcattcttactggtccacgcagatgcaggcggcctgaggccagtgctgtaccaagtagaagacggttcctaaggacagagtttgtctgttttctaacaaagaaaaattctacaaaggagaggttgggcgttacaaaggcattgtgaatctaataaaaggaaagtgtcgctttctgtggcgttttctttcattttctcccgctgaggcatttcagtctaatttcatgtggttttgtgctgtctcagctctaatgtttgcagcctgctgagcctaacaaggcagtggtctcaagaacattctttgtgcctttttaaagtactccattttatttttatgatagttatgtatttatttcacagatatatttaagtacccactttgtgtcaggtacagtacaagcaatgaagataaaacagaaaccaaaacacactcccttacagggaaaactgacaccacgttgccacaaaatgttgagtatagtcaactctgctgtgtggatcggagggcctgcatttatcctacaaataattgaatgtaatcctacattcatgtattcattggcagtacggagtaataaatgcagcaatgtcataaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:22930 -> Molecular function: GO:0005097 [Rab GTPase activator activity] evidence: IDA
GeneID:22930 -> Molecular function: GO:0017137 [Rab GTPase binding] evidence: IPI
GeneID:22930 -> Biological process: GO:0007420 [brain development] evidence: IMP
GeneID:22930 -> Biological process: GO:0021854 [hypothalamus development] evidence: IMP
GeneID:22930 -> Biological process: GO:0032851 [positive regulation of Rab GTPase activity] evidence: IDA
GeneID:22930 -> Biological process: GO:0043010 [camera-type eye development] evidence: IMP
GeneID:22930 -> Biological process: GO:0043087 [regulation of GTPase activity] evidence: IDA
GeneID:22930 -> Biological process: GO:0060325 [face morphogenesis] evidence: IMP
GeneID:22930 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:22930 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:22930 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:22930 -> Cellular component: GO:0005813 [centrosome] evidence: IDA
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