Home |
Help |
Advanced search
2024-04-20 04:43:56, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001253912 5678 bp mRNA linear PRI 14-JUL-2013
DEFINITION Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
(TBC1D1), transcript variant 2, mRNA.
ACCESSION NM_001253912
VERSION NM_001253912.1 GI:359807034
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 5678)
AUTHORS Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A.,
Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M.,
Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M.,
Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M.,
Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M.
TITLE A genome-wide association study identifies 2 susceptibility Loci
for Crohn's disease in a Japanese population
JOURNAL Gastroenterology 144 (4), 781-788 (2013)
PUBMED 23266558
REFERENCE 2 (bases 1 to 5678)
AUTHORS Pehmoller,C., Brandt,N., Birk,J.B., Hoeg,L.D., Sjoberg,K.A.,
Goodyear,L.J., Kiens,B., Richter,E.A. and Wojtaszewski,J.F.
TITLE Exercise alleviates lipid-induced insulin resistance in human
skeletal muscle-signaling interaction at the level of TBC1 domain
family member 4
JOURNAL Diabetes 61 (11), 2743-2752 (2012)
PUBMED 22851577
REMARK GeneRIF: Data suggest that insulin increases phosphorylation of
signaling nexus TBC1D1 independent of prior exercise or
lipid/Intralipid administration.
REFERENCE 3 (bases 1 to 5678)
AUTHORS Divaris,K., Monda,K.L., North,K.E., Olshan,A.F., Lange,E.M.,
Moss,K., Barros,S.P., Beck,J.D. and Offenbacher,S.
TITLE Genome-wide association study of periodontal pathogen colonization
JOURNAL J. Dent. Res. 91 (7 SUPPL), 21S-28S (2012)
PUBMED 22699663
REFERENCE 4 (bases 1 to 5678)
AUTHORS Jessen,N., An,D., Lihn,A.S., Nygren,J., Hirshman,M.F., Thorell,A.
and Goodyear,L.J.
TITLE Exercise increases TBC1D1 phosphorylation in human skeletal muscle
JOURNAL Am. J. Physiol. Endocrinol. Metab. 301 (1), E164-E171 (2011)
PUBMED 21505148
REMARK GeneRIF: A single bout of exercise regulates TBC1D1 and AS160
phosphorylation on multiple sites in human skeletal muscle.
REFERENCE 5 (bases 1 to 5678)
AUTHORS Park,S.Y., Jin,W., Woo,J.R. and Shoelson,S.E.
TITLE Crystal structures of human TBC1D1 and TBC1D4 (AS160)
RabGTPase-activating protein (RabGAP) domains reveal critical
elements for GLUT4 translocation
JOURNAL J. Biol. Chem. 286 (20), 18130-18138 (2011)
PUBMED 21454505
REMARK GeneRIF: Crystal structures of human TBC1D1 and TBC1D4 (AS160)
RabGTPase-activating protein (RabGAP) domains reveal critical
elements for GLUT4 translocation.
REFERENCE 6 (bases 1 to 5678)
AUTHORS Chavez,J.A., Roach,W.G., Keller,S.R., Lane,W.S. and Lienhard,G.E.
TITLE Inhibition of GLUT4 translocation by Tbc1d1, a Rab
GTPase-activating protein abundant in skeletal muscle, is partially
relieved by AMP-activated protein kinase activation
JOURNAL J. Biol. Chem. 283 (14), 9187-9195 (2008)
PUBMED 18258599
REFERENCE 7 (bases 1 to 5678)
AUTHORS Roach,W.G., Chavez,J.A., Miinea,C.P. and Lienhard,G.E.
TITLE Substrate specificity and effect on GLUT4 translocation of the Rab
GTPase-activating protein Tbc1d1
JOURNAL Biochem. J. 403 (2), 353-358 (2007)
PUBMED 17274760
REMARK GeneRIF: form of Tbc1d1 also inhibited GLUT4 translocation and that
this effect also required a functional GAP domain
REFERENCE 8 (bases 1 to 5678)
AUTHORS Stone,S., Abkevich,V., Russell,D.L., Riley,R., Timms,K., Tran,T.,
Trem,D., Frank,D., Jammulapati,S., Neff,C.D., Iliev,D., Gress,R.,
He,G., Frech,G.C., Adams,T.D., Skolnick,M.H., Lanchbury,J.S.,
Gutin,A., Hunt,S.C. and Shattuck,D.
TITLE TBC1D1 is a candidate for a severe obesity gene and evidence for a
gene/gene interaction in obesity predisposition
JOURNAL Hum. Mol. Genet. 15 (18), 2709-2720 (2006)
PUBMED 16893906
REMARK GeneRIF: coding variant R125W affects obesity susceptibility,
delimits the location of an obesity gene at 4q34-35 and identifies
a gene/gene interaction that influences the risk for obesity
predisposition
REFERENCE 9 (bases 1 to 5678)
AUTHORS Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
TITLE Immunoaffinity profiling of tyrosine phosphorylation in cancer
cells
JOURNAL Nat. Biotechnol. 23 (1), 94-101 (2005)
PUBMED 15592455
REFERENCE 10 (bases 1 to 5678)
AUTHORS White,R.A., Pasztor,L.M., Richardson,P.M. and Zon,L.I.
TITLE The gene encoding TBC1D1 with homology to the tre-2/USP6 oncogene,
BUB2, and cdc16 maps to mouse chromosome 5 and human chromosome 4
JOURNAL Cytogenet. Cell Genet. 89 (3-4), 272-275 (2000)
PUBMED 10965142
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB036208.1, BC050321.1, AK295746.1, BQ672157.1, AW364769.1,
CR996632.1 and AK074954.1.
Summary: TBC1D1 is the founding member of a family of proteins
sharing a 180- to 200-amino acid TBC domain presumed to have a role
in regulating cell growth and differentiation. These proteins share
significant homology with TRE2 (USP6; MIM 604334), yeast Bub2, and
CDC16 (MIM 603461) (White et al., 2000 [PubMed 10965142]).[supplied
by OMIM, Mar 2008].
Transcript Variant: This variant (2) has multiple differences in
the coding region, but maintains the reading frame, compared to
variant 1. The encoded isoform (2) is shorter than isoform 1.
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 :: AK295746.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025083, ERS025084 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-397 DB036208.1 1-397
398-1623 BC050321.1 395-1620
1624-1800 AK295746.1 1447-1623
1801-1801 BQ672157.1 545-545
1802-3614 AK295746.1 1625-3437
3615-3734 AW364769.1 148-267
3735-4290 CR996632.1 79-634
4291-5678 AK074954.1 1602-2989
FEATURES Location/Qualifiers
source 1..5678
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p14"
gene 1..5678
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="TBC1 (tre-2/USP6, BUB2, cdc16) domain family,
member 1"
/db_xref="GeneID:23216"
/db_xref="HGNC:11578"
/db_xref="MIM:609850"
exon 1..265
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 14
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:184741485"
variation 17
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:189147798"
variation 141
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:10029658"
variation 169
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:10029748"
variation 177
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376732662"
variation 232
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:10008151"
exon 266..775
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 311
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2279028"
variation 342
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368274059"
CDS 359..3838
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="isoform 2 is encoded by transcript variant 2; TBC1
domain family member 1"
/codon_start=1
/product="TBC1 domain family member 1 isoform 2"
/protein_id="NP_001240841.1"
/db_xref="GI:359807035"
/db_xref="CCDS:CCDS58897.1"
/db_xref="GeneID:23216"
/db_xref="HGNC:11578"
/db_xref="MIM:609850"
/translation="
MEPITFTARKHLLSNEVSVDFGLQLVGSLPVHSLTTMPMLPWVVAEVRRLSRQSTRKEPVTKQVRLCVSPSGLRCEPEPGRSQQWDPLIYSSIFECKPQRVHKLIHNSHDPSYFACLIKEDAVHRQSICYVFKADDQTKVPEIISSIRQAGKIARQEELHCPSEFDDTFSKKFEVLFCGRVTVAHKKAPPALIDECIEKFNHVSGSRGSESPRPNPPHAAPTGSQEPVRRPMRKSFSQPGLRSLAFRKELQDGGLRSSGFFSSFEESDIENHLISGHNIVQPTDIEENRTMLFTIGQSEVYLISPDTKKIALEKNFKEISFCSQGIRHVDHFGFICRESSGGGGFHFVCYVFQCTNEALVDEIMMTLKQAFTVAAVQQTAKAPAQLCEGCPLQSLHKLCERIEGMNSSKTKLELQKHLTTLTNQEQATIFEEVQKLRPRNEQRENELIISFLRCLYEEKQKEHIHIGEMKQTSQMAAENIGSELPPSATRFRLDMLKNKAKRSLTESLESILSRGNKARGLQEHSISVDLDSSLSSTLSNTSKEPSVCEKEALPISESSFKLLGSSEDLSSDSESHLPEEPAPLSPQQAFRRRANTLSHFPIECQEPPQPARGSPGVSQRKLMRYHSVSTETPHERNVDPSPVGESKHRPGQSSAPAPPPRLNPSASSPNFFKYLKHNSSGEQSGNAVPKSISYRNALRKKLHSSSSVPNFLKFLAPVDENNTSDFMNTKRDFESKANHLGDSGGTPVKTRRHSWRQQIFLRVATPQKACDSSSRYEDYSELGELPPRSPLEPVCEDGPFGPPPEEKKRTSRELRELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLKEVTTVWEKMLSTPGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQLTSQQHAILIDLGRTFPTHPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGILLLHMSEEEAFKMLKFLMFDMGLRKQYRPDMIILQMEKTINQVFEMDIAKQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQAMLTLELERSALLQTVEELRRRSAEPSDREPECTQPEPTGD
"
misc_feature 866..>991
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="Pleckstrin homology-like domain; Region: PH-like;
cl00273"
/db_xref="CDD:206947"
misc_feature <1190..1459
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="Pleckstrin homology-like domain; Region: PH-like;
cl00273"
/db_xref="CDD:206947"
misc_feature order(1223..1243,1250..1270,1316..1330,1349..1363,
1403..1417,1442..1459)
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="PH-like core; other site"
/db_xref="CDD:176275"
misc_feature 1877..1879
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q86TI0.2); phosphorylation site"
misc_feature 2051..2053
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q86TI0.2); phosphorylation site"
misc_feature 2066..2068
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q86TI0.2); phosphorylation site"
misc_feature 2075..2077
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q86TI0.2); phosphorylation site"
misc_feature 2111..2113
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q86TI0.2); phosphorylation site"
misc_feature 2708..2875
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="Domain of unknown function (DUF3350); Region:
DUF3350; pfam11830"
/db_xref="CDD:152266"
misc_feature 3029..>3442
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/note="Domain in Tre-2, BUB2p, and Cdc16p. Probable
Rab-GAPs; Region: TBC; smart00164"
/db_xref="CDD:197550"
variation 398
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2279027"
variation 403
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144039014"
variation 411
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371619257"
variation 412
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:151073867"
variation 420
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:376073388"
variation 439
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140988541"
variation 491
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:369686577"
variation 496
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373623298"
variation 522
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:4008480"
variation 531
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:375973693"
variation 551
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369705792"
variation 559
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372533862"
variation 565
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145947299"
variation 625
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:112861825"
variation 656
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140419305"
variation 721
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145529203"
variation 724
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2279026"
variation 731
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:35859249"
variation 759
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:371184104"
variation 760
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143128138"
variation 763
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:148233374"
exon 776..1240
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 807
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141193435"
variation 815
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369744022"
variation 818
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199907184"
variation 822
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:374116224"
variation 935
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147361950"
variation 960
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377732925"
variation 974
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:202141166"
variation 984
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:200336838"
variation 991
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143318665"
variation 996
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:59426552"
variation 997
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:58649791"
variation 1003
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:201858985"
variation 1017
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:11935412"
variation 1018
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61731587"
variation 1020
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:372198887"
variation 1041
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:10501"
variation 1056
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368357722"
variation 1069
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:147525296"
variation 1075
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370249626"
variation 1079
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371761824"
variation 1163
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139404167"
variation 1168
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:150047198"
variation 1171
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145326826"
variation 1196
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372355633"
variation 1237
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148752741"
exon 1241..1330
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1245
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145932557"
variation 1261
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375742782"
variation 1265
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373742470"
variation 1292
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370157598"
exon 1331..1435
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1338
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:112261209"
variation 1365
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199776035"
variation 1367
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200300060"
variation 1378
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182769159"
variation 1387
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:187837863"
variation 1401
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:145572665"
variation 1408
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146529803"
exon 1436..1568
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
STS 1447..1570
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="RH92557"
/db_xref="UniSTS:90592"
variation 1450
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:187586429"
variation 1503
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369942681"
variation 1508
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:61731607"
variation 1523
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:61731610"
variation 1525
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138581395"
variation 1530
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:201580466"
variation 1531
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:34119528"
exon 1569..1660
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1595
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146950338"
variation 1612
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:112435875"
variation 1614
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143458673"
variation 1615
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:376905847"
variation 1626
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:74955942"
variation 1643
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372410857"
exon 1661..1771
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1696
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:140673717"
variation 1708
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201070135"
variation 1736
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:79973414"
variation 1748
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:111284604"
variation 1755
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200266191"
exon 1772..1900
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1787
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141092310"
variation 1818
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372930518"
variation 1834
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:201258145"
variation 1835
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11549695"
variation 1881
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:147138668"
exon 1901..1987
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 1932
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374898959"
variation 1962
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:367795610"
exon 1988..2268
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 2000
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200919268"
variation 2020
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:111482397"
variation 2032
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148173697"
variation 2047
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142000858"
variation 2055
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370317412"
variation 2064
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200329815"
variation 2067
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150670938"
variation 2077
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372454900"
variation 2107
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371632898"
variation 2112
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:61752489"
variation 2113
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202224734"
variation 2135
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:370134989"
variation 2170
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:150930395"
variation 2207
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:78097286"
variation 2212
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144237469"
variation 2214
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145177739"
variation 2223
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:202028456"
variation 2226
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368638065"
variation 2239
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371825431"
variation 2248
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140029744"
variation 2253
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200637650"
exon 2269..2430
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 2311
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:188959191"
variation 2313
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:79179700"
variation 2331
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:193244637"
variation 2348
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:117452860"
exon 2431..2550
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 2441
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:58983546"
variation 2442
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:180958473"
variation 2449
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:144452713"
variation 2453
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146605077"
variation 2530
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201007789"
variation 2545
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:34201174"
exon 2551..2690
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 2557
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200604910"
variation 2561
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:200893802"
variation 2562
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375364360"
variation 2575
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199769916"
variation 2576
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:148919679"
variation 2595
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:200586797"
variation 2599
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:116694238"
variation 2609
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:140253816"
variation 2652
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201600071"
variation 2665
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369081896"
variation 2675
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146980638"
exon 2691..2876
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 2694
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:7677030"
variation 2742
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138058343"
variation 2758
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:373688498"
variation 2793
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202172601"
variation 2801
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376244849"
variation 2822
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201447112"
exon 2877..3038
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 2894
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:6850741"
variation 2896
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146834783"
variation 2929
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:377584682"
variation 2935
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:145804193"
variation 2982
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:138362592"
variation 3031
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149645940"
exon 3039..3197
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 3047
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:199992726"
variation 3048
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:144365137"
variation 3064
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148353711"
variation 3110
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:142187678"
variation 3114
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:202235244"
variation 3181
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:146364167"
variation 3193
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371338316"
exon 3198..3442
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 3217
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369492733"
variation 3287
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:372955287"
variation 3350
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:139639988"
variation 3404
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190882933"
variation 3415
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:369737635"
exon 3443..3463
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
exon 3464..3637
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 3481
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:185429602"
variation 3540
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141434035"
variation 3595
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200211276"
variation 3601
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145258995"
variation 3603
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:376683121"
exon 3638..5678
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/inference="alignment:Splign:1.39.8"
variation 3641
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:147610055"
variation 3648
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:199769631"
variation 3721
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:142082982"
variation 3738
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:13110318"
variation 3756
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:151143743"
variation 3757
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375379532"
variation 3762
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:140049928"
variation 3771
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:150295101"
variation 3777
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:138981524"
variation 3797
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:142224285"
variation 3798
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:145834587"
variation 3828
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375094591"
variation 3866
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:180778179"
variation 3906
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:9852"
variation 3907
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:187612705"
STS 3938..4109
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="D4S2507E"
/db_xref="UniSTS:28882"
variation 3940
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:190339487"
variation 3956
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:182167537"
STS 3969..4118
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="SHGC-59210"
/db_xref="UniSTS:27409"
variation 4007
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:12644032"
variation 4017..4018
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="t"
/db_xref="dbSNP:140473695"
variation 4018..4019
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="t"
/db_xref="dbSNP:71751139"
variation 4027
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2882"
variation 4029
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:15275"
variation 4040
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:15276"
variation 4092
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:186099739"
variation 4184
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:190469420"
variation 4186
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:181354169"
variation 4204
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185625994"
variation 4219
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:16994264"
variation 4263
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:75695278"
variation 4369
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:368725051"
variation 4388
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:148588413"
variation 4433
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:11941514"
variation 4458
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:191175689"
variation 4634..4635
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:368675910"
variation 4668
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:75566567"
variation 4779
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143013479"
variation 4795
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:182546614"
variation 4866
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375227250"
variation 4924
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:189248409"
variation 4963..4964
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:371391694"
variation 4964
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="a"
/db_xref="dbSNP:11330073"
variation 5005
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="c"
/db_xref="dbSNP:368299523"
variation 5043
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:62297301"
variation 5058
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:371752989"
variation 5090
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:78069747"
variation 5240
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:140112639"
variation 5244
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:143776110"
variation 5245
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="g"
/replace="t"
/db_xref="dbSNP:16994266"
variation 5287
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:199682170"
variation 5287
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace=""
/replace="g"
/db_xref="dbSNP:3839162"
STS 5384..5594
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="WI-22198"
/db_xref="UniSTS:12477"
STS 5386..5508
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="RH47722"
/db_xref="UniSTS:67692"
variation 5388
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:191975309"
STS 5398..5492
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/standard_name="D4S2540E"
/db_xref="UniSTS:150969"
variation 5415
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146830672"
variation 5459
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374944172"
variation 5478
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="t"
/db_xref="dbSNP:77368662"
variation 5523
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="c"
/replace="g"
/db_xref="dbSNP:77698656"
variation 5599
/gene="TBC1D1"
/gene_synonym="TBC; TBC1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371533159"
ORIGIN
ctcctcttcggctgctgctcctggtgccgccaccgtccgccggtgcctgttgctgccgccgccgcgggacctgctgtgtcctcagctgggtggagaagaggcgggcgccgagccgaggggagccccctccccgtccccccgcggcgggaagagcgcagccagccgggtgcgatggactccccgcccgcccaggccgtccccaggatgcccccaagcacctgcgcgtcccggcccggccccgggctctgagcgcgccgcggcacaggtttctgcatatgaagtgtgtaaaatagattgcttgatccaaaacagaaaaacagtgataactgttttgctgagttcccagacccttcccaagatggaaccaataacattcacagcaaggaaacatctgctttctaacgaggtctcggtggattttggcctgcagctggtgggctccctgcctgtgcattccctgaccaccatgcccatgctgccctgggttgtggctgaggtgcgaagactcagcaggcagtccaccagaaaggaacctgtaaccaagcaagtccggctttgcgtttcaccctctggactgagatgtgaacctgagccagggagaagtcaacagtgggatcccctgatctattccagcatctttgagtgcaagcctcagcgtgttcacaaactgattcacaacagtcatgacccaagttactttgcttgtctgattaaggaagacgctgtccaccggcagagtatctgctatgtgttcaaagccgatgatcaaacaaaagtgcctgagatcatcagctccatccgtcaggcggggaagatcgcccggcaggaggagctgcactgcccgtccgagttcgacgacacgttttccaagaagttcgaggtgctcttctgcggccgcgtgacggtggcgcacaagaaggctccgccggccctgatcgacgagtgcatcgagaagttcaatcacgtcagcggcagccgggggtccgagagcccccgccccaacccgccccatgccgcgcccacagggagccaggagcctgtgcgcaggcccatgcgcaagtccttctcccagcccggcctgcgctcgctggcctttaggaaggagctgcaggatgggggcctccgaagcagcggcttcttcagctccttcgaggagagcgacattgagaaccacctcattagcggacacaatattgtgcagcccacagatatcgaggaaaatcgaactatgctcttcacgattggccagtctgaagtttacctcatcagtcctgacaccaaaaaaatagcattggagaaaaattttaaggagatatccttttgctctcagggcatcagacacgtggaccactttgggtttatctgtcgggagtcttccggaggtggcggctttcattttgtctgttacgtgtttcagtgcacaaatgaggctctggttgatgaaattatgatgaccctgaaacaggccttcacggtggccgcagtgcagcagacagctaaggcgccagcccagctgtgtgagggctgccccctgcaaagcctgcacaagctctgtgagaggatagagggaatgaattcttccaaaacaaaactagaactgcaaaagcacctgacgacattaaccaatcaggagcaggcgactatttttgaagaggttcagaaattgagaccgagaaatgagcagcgagagaatgaattgattatttcttttctgagatgtttatatgaagagaaacagaaagaacacatccatattggggagatgaagcagacatcgcagatggcagcagagaatattggaagtgaattaccacccagtgccactcgatttaggctagatatgctgaaaaacaaagcaaagagatctttaacagagtctttagaaagtattttgtcccggggtaataaagccagaggcctgcaggaacactccatcagtgtggatctggatagctccctgtctagtacattaagtaacaccagcaaagagccatctgtgtgtgaaaaggaggccttgcccatctctgagagctcctttaagctcctcggctcctcggaggacctgtccagtgactcggagagtcatctcccagaagagccagctccgctgtcgccccagcaggccttcaggaggcgagcaaacaccctgagtcacttccccatcgaatgccaggaacctccacaacctgcccgggggtccccgggggtttcgcaaaggaaacttatgaggtatcactcagtgagcacagagacgcctcatgaacgaaatgtggatccttcacctgtgggtgagtctaagcaccgcccaggtcagtcttcagctcctgctcctccacctcgtcttaacccctccgcctcctcgccaaacttttttaagtacctaaaacataattccagtggagaacaaagtgggaatgctgtgccaaagagcatctcctaccgtaatgccctgcggaaaaaacttcattcttcttcctctgtgccaaattttctaaaatttctggctcctgtagatgaaaataacacctctgattttatgaacacaaaaagggactttgaatccaaagcaaaccatcttggtgattctggtgggactcctgtgaagacccggaggcattcctggaggcagcagatattcctccgagtagccaccccgcagaaggcgtgcgattcttccagcagatatgaagattattcagagctgggagagcttcccccacgatctcctttagaaccagtttgtgaagatgggccctttggccccccaccagaggaaaagaaaaggacatctcgtgagctccgagagctgtggcaaaaggctattcttcaacagatactgctgcttagaatggagaaggaaaatcagaagctccaagcctctgaaaatgatttgctgaacaagcgcctgaagctcgattatgaagaaattactccctgtcttaaagaagtaactacagtgtgggaaaagatgcttagcactccaggaagatcaaaaattaagtttgacatggaaaaaatgcactcggctgttgggcaaggtgtgccacgtcatcaccgaggtgaaatctggaaatttctagctgagcaattccaccttaaacaccagtttcccagcaaacagcagccaaaggatgtgccatacaaagaactcttaaagcagctgacttcccagcagcatgcgattcttattgaccttgggcgaacctttcctacacacccatacttctctgcccagcttggagcaggacagctatcgctttacaacattttgaaggcctactcacttctagaccaggaagtgggatattgccaaggtctcagctttgtagcaggcattttgcttcttcatatgagtgaggaagaggcgtttaaaatgctcaagtttctgatgtttgacatggggctgcggaaacagtatcggccagacatgattattttacagatggaaaagaccatcaatcaggtatttgaaatggacatcgctaaacagttacaagcttatgaagttgagtaccacgtccttcaagaagaacttatcgattcctctcctctcagtgacaaccaaagaatggataaattagagaaaaccaacagcagcttacgcaaacagaaccttgacctccttgaacagttgcaggtggcaaatggtaggatccaaagccttgaggccaccattgagaagctcctgagcagtgagagcaagctgaagcaggccatgcttaccttagaactggagcggtcggccctgctgcagacggtggaggagctgcggcggcggagcgcagagcccagcgaccgggagcctgagtgcacgcagcccgagcccacgggcgactgacagctctgcaggagagattgcaacaccatcccacactgtccaggccttaactgagagggacagaagacgctggaaggagagaaggaagcgggaagtgtgcttctcagggaggaaaccggcttgccagcaagtagattcttacgaactccaacttgcaattcagggggcatgtcccagtgttttttttgttgtttttagatactaaatcgtcccttctccagtcctgattactgtacacagtagctttagatggcgtggacgtgaataaatgcaacttatgttttcttgttggttcctttttgagtgtcactgtgtttgtaaagagcattcacaatacggtggaatttcaaaagctggaagagctcgagatcatgcctcaggcaaaggcgtgggtccatcgttcttccgagagggtttgtgtggcgactacaccctcagcgtccctggcaaggtgcagttggctctcgcccattcttgttatggaaacctaagatgatcattgggaagatcagtgatcttgggtcattgatccctggctcagaggatagcggtttccatcataaaccaagatgatgagttcagcctttatccctcgtggttccactagatgtaacttaaaggagttaacatttgaggactttgttctacatcagattttactatttgaatgtttaagatcactttattgaatttgaagatcatcaaattaaataaaatgatttatttaatttggatatcctgatcactgtcaagtgaaatggatctctctctttggtatttaaggaagtttgtctttaaaaaaaaaatagagtgttttcatacatttttgcttatcccataagtacagttgatcaaagtcatagtaggtaaatgctttatgggacagctgacaccttttagaccctaccaggtattgctagcatgtgagctgcagttgtggggtctgagatatttctttgtggtagtttcatacccatactatagagtcatgtatttatttttgcctgttgtgtgatgtaatgcaatcatgttcctttgagtctccatcccttggaaatctgacttcttgcagaaggagtaggcacatcaagatattcaggggtgccccaagagtctgggactttcaaaaaaaaaagatcaggctgaaactgcagtcagatttatgacagctgacagtttttcagaggtcgcacacagtgactctcctctctcaggatgacgaggacctgtgccttcaacaagcaaaatgctgctcacggttgtcctgcttgcagccagtcactgtgtaaagcctctctgatgtgcacttaagagtgggttgctttctcacaaagatggggttctgtgcagtcacaggtcacttccttgacaacacaatcatttctgatctttatcactgtaaccacgtcttctattccataggagtttcttttgattctctcagttgcggggggcatctcttaatcctggggtaaaaggagagattgccatacttagactcactgtgagtctccccggccatttcacgaggagaccacagtgctgccaccagtgcctaaacaggtggctggcattcgagacttcctcctgttccctgggtcagaggatagcggtttccatcataaaccaagatgatgagttcagcctttatccctcgtggttccgctagatgtaacttataggagttaacatttgaggactttgttctgcatcagatcttactatttgaatgtttactgttggattttgggcatcttattactgttactcaaaaacattgactctgcatcaagaaagaaacaagaaagcaataaaacaagaaataattcatgctcacatt
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:23216 -> Molecular function: GO:0005097 [Rab GTPase activator activity] evidence: IEA
GeneID:23216 -> Biological process: GO:0016044 [cellular membrane organization] evidence: TAS
GeneID:23216 -> Biological process: GO:0032880 [regulation of protein localization] evidence: IEA
GeneID:23216 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
GeneID:23216 -> Cellular component: GO:0005829 [cytosol] evidence: TAS
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.