TRQ-TTG1-1 (tRNA-Gln (anticodon TTG) 1-1) - Rat Genome Database

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Gene: TRQ-TTG1-1 (tRNA-Gln (anticodon TTG) 1-1) Homo sapiens
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Symbol: TRQ-TTG1-1
Name: tRNA-Gln (anticodon TTG) 1-1
RGD ID: 1349965
HGNC Page HGNC:12342
Description: Mammalian cells contain at least 2 species of glutamine tRNA, the Gln(CUG) form (TRQ1; MIM 189919) and the Gln(UUG) form. Nemoto et al. (1991) [PubMed 2041751] reported the nucleotide sequence of the human tRNA(Gln/UUG) gene. In a correction, Nemoto et al. (1991) [PubMed 2041751] stated that the gene involved should have been designated tRNA-GLN/U*UG, where U* is a derivative of U.[supplied by OMIM, Sep 2009]
Type: trna
RefSeq Status: MODEL
Previously known as: transfer RNA-Gln (TTG) 1-1; trna glutamine 2; TRNAQ2; TRQ2
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381749,192,528 - 49,192,599 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371747,269,890 - 47,269,961 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361744,624,889 - 44,624,960 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map17q21.32NCBI
HuRef1742,636,471 - 42,636,542 (+)NCBIHuRef
CHM1_11747,335,147 - 47,335,218 (+)NCBICHM1_1
T2T-CHM13v2.01750,055,617 - 50,055,688 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:2041751   PMID:18984615  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33		 pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:48520885-49511208)x1 copy number loss See cases [RCV000053431] Chr17:48520885..49511208 [GRCh38]
Chr17:46598247..47588570 [GRCh37]
Chr17:43953246..44943569 [NCBI36]
Chr17:17q21.32-21.33		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:47986886-49329397)x1 copy number loss See cases [RCV000142900] Chr17:47986886..49329397 [GRCh38]
Chr17:46064252..47406759 [GRCh37]
Chr17:43419251..44761758 [NCBI36]
Chr17:17q21.32-21.33		 pathogenic
GRCh38/hg38 17q21.32-21.33(chr17:48450628-49552921)x3 copy number gain See cases [RCV000143451] Chr17:48450628..49552921 [GRCh38]
Chr17:46527990..47630283 [GRCh37]
Chr17:43882989..44985282 [NCBI36]
Chr17:17q21.32-21.33		 uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q21.32(chr17:47210308-47283986)x3 copy number gain See cases [RCV000447933] Chr17:47210308..47283986 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-21.33(chr17:46899690-47540874)x3 copy number gain not provided [RCV000849505] Chr17:46899690..47540874 [GRCh37]
Chr17:17q21.32-21.33		 uncertain significance
GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)x3 copy number gain not provided [RCV002472415] Chr17:46753824..47577721 [GRCh37]
Chr17:17q21.32-21.33		 uncertain significance
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC TRQ-TTG1-1 COSMIC
GTEx TRQ-TTG1-1 GTEx
HGNC ID HGNC:12342 ENTREZGENE
Human Proteome Map TRQ-TTG1-1 Human Proteome Map
NCBI Gene 7229 ENTREZGENE
OMIM 189923 OMIM


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-07 TRQ-TTG1-1  tRNA-Gln (anticodon TTG) 1-1  TRQ-TTG1-1  transfer RNA-Gln (TTG) 1-1  Symbol and/or name change 5135510 APPROVED
2014-06-24 TRQ-TTG1-1  transfer RNA-Gln (TTG) 1-1  TRNAQ2  transfer RNA glutamine 2 (anticodon UUG)  Symbol and/or name change 5135510 APPROVED