RGD:405764716 Rat Genome Database

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Variant: RGD:405764716 -  Homo sapiens

RGD ID: 405764716
ClinVar ID: CV3327993
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TARS3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 102,194,891
GRCh38 15 101,654,688
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_152334.3:c.2303G>A
NC_000015.10:g.101654688C>T
NC_000015.9:g.102194891C>T
NM_152334.2:c.2303G>A
More...
01/22/2024 missense variant uncertain significance AllHighlyPenetrant

Gene Symbol:TARS3
Accession:NM_152334
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 768
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAEALAAEAVASRLERQEEDIRWLWSEVERLRDEQLNAPYSCQAEGPCLTREVAQLRAENCDLRHRLCSLRLCLAEERS
RQATLESAELEAAQEAGAQPPPSQSQDKDMKKKKMKESEADSEVKHQPIFIKERLKLFEILKKDHQLLLAIYGKKGDTSN
IITVRVADGQTVQGEVWKTTPYQVAAEISQELAESTVIAKVNGELWDLDRPLEGDSSLELLTFDNEEAQAVYWHSSAHIL
GEAMELYYGGHLCYGPPIENGFYYDMFIEDRAVSSTELSALENICKAIIKEKQPFERLEVSKEILLEMFKYNKFKCRILN
EKVNTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNR
DHRKIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEI
EKDTFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCTVEQIEEEIKGCLQ
FLQSVYSTFGFSFQLNLSTRPENFLGEIEMWNEAEKQLQNSLMDFGEPWKMNPGDGAFYGPKIDIKIKDAIGRYHQCATI
QLDFQLPIRFNLTYVSKDGDDKKRPVIIHRAILGSVERMIAILSENYGGKWPFWLSPRQVMVIPVGPTCEKYALQVSSEF
FEEGFMADVDLDHSCTLNKKIRNAQLAQYNFILVVGEKEKIDNAVNVQTRDNKIHGEILVTSAIDKLKNLRKTRTLNAEE
AF*

Gene Symbol:TARS3
Accession:XM_047432142
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 525
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELYYGGHLCYGPPIENGFYYDMFIEDRAVSSTELSALENICKAIIKEKQPFERLEVSKEILLEMFKYNKFKCRILNEKV
NTATTTVYRCGPLIDLCKGPHVRHTGKIKTIKIFKNSSTYWEGNPEMETLQRIYGISFPDNKMMRDWEKFQEEAKNRDHR
KIGKEQELFFFHDLSPGSCFFLPRGAFIYNTLTDFIREEYHKRDFTEVLSPNMYNSKLWEASGHWQHYSENMFTFEIEKD
TFALKPMNCPGHCLMFAHRPRSWREMPIRFADFGVLHRNELSGTLSGLTRVRRFQQDDAHIFCTVEQIEEEIKGCLQFLQ
SVYSTFGFSFQLNLSTRPENFLGEIEMWNEAEKQLQNSLMDFGEPWKMNPGDGAFYGPKIDIKIKDAIGRYHQCATIQLD
FQLPIRFNLTYVSKDGDDKKRPVIIHRAILGSVERMIAILSENYGGKWPFWLSPRQVMVIPVGPTCEKYALQVSSEFFEE
GFMADVDLDHSCTLNKKIRNAQLAQYNFILVVGEKEKIDNAVNVQTRDNKIHGEILVTSAIDKLKNLRKTRTLNAEEAF*

Gene Symbol:TARS3
Accession:XM_017021912
Location:INTRON

Gene Symbol:TARS3
Accession:XM_047432140
Location:INTRON

Gene Symbol:TARS3
Accession:XR_931749
Location:INTRON;NON-CODING

Gene Symbol:TARS3
Accession:XR_007064422
Location:INTRON;NON-CODING

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Database
Acc Id
Source(s)
ClinVar RCV004469237 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TARS3 CLINVAR