TRS-AGA2-6 (tRNA-Ser (anticodon AGA) 2-6) - Rat Genome Database

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Gene: TRS-AGA2-6 (tRNA-Ser (anticodon AGA) 2-6) Homo sapiens
Analyze
Symbol: TRS-AGA2-6
Name: tRNA-Ser (anticodon AGA) 2-6
RGD ID: 2300793
HGNC Page HGNC:34747
Description:
Type: trna
RefSeq Status: MODEL
Previously known as: transfer RNA-Ser (AGA) 2-6; TRNAS14; TRS-AGA2-1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38178,226,610 - 8,226,691 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37178,129,928 - 8,130,009 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17p13.1NCBI
HuRef178,025,510 - 8,025,591 (-)NCBIHuRef
CHM1_1178,139,058 - 8,139,139 (-)NCBICHM1_1
T2T-CHM13v2.0178,132,840 - 8,132,921 (-)NCBIT2T-CHM13v2.0
JBrowse:




References
Additional References at PubMed
PMID:18984615  


Genomics

Variants

.
Variants in TRS-AGA2-6
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 copy number gain See cases [RCV000141063] Chr17:7967712..8490279 [GRCh38]
Chr17:7871030..8393597 [GRCh37]
Chr17:7811755..8334322 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] Chr17:7750804..10112969 [GRCh38]
Chr17:7654122..10016286 [GRCh37]
Chr17:7594847..9957011 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1		 pathogenic
NM_025099.6(CTC1):c.*1534G>A single nucleotide variant Dyskeratosis congenita [RCV000396185] Chr17:8226646 [GRCh38]
Chr17:8129964 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1569C>T single nucleotide variant Dyskeratosis congenita [RCV000336270] Chr17:8226611 [GRCh38]
Chr17:8129929 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1540C>T single nucleotide variant Dyskeratosis congenita [RCV000351323] Chr17:8226640 [GRCh38]
Chr17:8129958 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1542C>G single nucleotide variant Dyskeratosis congenita [RCV000296369] Chr17:8226638 [GRCh38]
Chr17:8129956 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1565A>G single nucleotide variant Dyskeratosis congenita [RCV000372217] Chr17:8226615 [GRCh38]
Chr17:8129933 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1495G>A single nucleotide variant Dyskeratosis congenita [RCV000311506] Chr17:8226685 [GRCh38]
Chr17:8130003 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_025099.6(CTC1):c.*1553C>T single nucleotide variant Dyskeratosis congenita [RCV001125966] Chr17:8226627 [GRCh38]
Chr17:8129945 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1531T>C single nucleotide variant Dyskeratosis congenita [RCV001128070] Chr17:8226649 [GRCh38]
Chr17:8129967 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_025099.6(CTC1):c.*1517G>A single nucleotide variant Dyskeratosis congenita [RCV001128071] Chr17:8226663 [GRCh38]
Chr17:8129981 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic

Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC TRS-AGA2-6 COSMIC
GTEx TRS-AGA2-6 GTEx
HGNC ID HGNC:34747 ENTREZGENE
Human Proteome Map TRS-AGA2-6 Human Proteome Map
NCBI Gene 100189184 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-07 TRS-AGA2-6  tRNA-Ser (anticodon AGA) 2-6  TRS-AGA2-6  transfer RNA-Ser (AGA) 2-6  Symbol and/or name change 5135510 APPROVED
2016-02-29 TRS-AGA2-6  transfer RNA-Ser (AGA) 2-6  TRS-AGA2-1  transfer RNA-Ser (AGA) 2-1  Symbol and/or name change 5135510 APPROVED
2014-06-24 TRS-AGA2-1  transfer RNA-Ser (AGA) 2-1  TRNAS14  transfer RNA serine 14 (anticodon AGA)  Symbol and/or name change 5135510 APPROVED