RGD:15184069 Rat Genome Database

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Variant: RGD:15184069 -  Homo sapiens

RGD ID: 15184069
RS ID: rs1281984482
ClinVar ID: CV738315
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NARS2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 78,180,305
GRCh38 11 78,469,259
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001243251.2:c.333C>T
NM_024678.6:c.1014C>T
NG_042046.1:g.110606C>T
NP_001230180.1:p.Thr111=
More... 		01/08/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NARS2
Accession:XM_047427594
Location:3UTRS;EXON

Gene Symbol:NARS2
Accession:XM_047427595
Location:3UTRS;EXON

Gene Symbol:NARS2
Accession:XM_011545253
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSG
LDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRS
EATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGP
TFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVG
ELFGGGLREERYHFLEERLARYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFPHSCLL*

Gene Symbol:NARS2
Accession:NM_024678
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSG
LDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRS
EATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGP
TFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTVAAVDLLVPGVG
ELFGGGLREERYHFLEERLARSGLTEVYQWYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIPFPRFPHSCLL*

Gene Symbol:NARS2
Accession:NM_001243251
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGAFTQVFTFGPTFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQK
DRLEHMLKNNFLIISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQH
TVAAVDLLVPGVGELFGGGLREERYHFLEERLARSGLTEVYQWYLDLRRFGSVPHGGFGMGFERYLQCILGVDNIKDVIP
FPRFPHSCLL*

Gene Symbol:NARS2
Accession:XM_047427593
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSG
LDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRS
EATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGP
TFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTGCNNWL*

Gene Symbol:NARS2
Accession:XM_047427592
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSG
LDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRS
EATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGP
TFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTGCNNWL*

Gene Symbol:NARS2
Accession:XM_047427591
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 338
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGVRCLLRSVRFCSSAPFPKHKPSAKLSVRDALGAQNASGERIKIQGWIRSVRSQKEVLFLHVNDGSSLESLQVVADSG
LDSRELNFGSSVEVQGQLIKSPSKRQNVELKAEKIKVIGNCDAKDFPIKYKERHPLEYLRQYPHFRCRTNVLGSILRIRS
EATAAIHSFFKDSGFVHIHTPIITSNDSEGAGELFQLEPSGKLKVPEENFFNVPAFLTVSGQLHLEVMSGAFTQVFTFGP
TFRAENSQSRRHLAEFYMIEAEISFVDSLQDLMQVIEELFKATTMMVLSKCPEDVELCHKFIAPGQKDRLEHMLKNNFLI
ISYTEAVEILKQASQNFTFTPEWGADLRTEHEKYLVKHCGNIPVFVINYPLTLKPFYMRDNEDGPQHTGCNNWL*

Gene Symbol:NARS2
Accession:XM_017018302
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000908196 CLINVAR
dbSNP (RS) rs1281984482 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NARS2 CLINVAR
OMIM 612803 CLINVAR