RGD:38471100 Rat Genome Database

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Variant: RGD:38471100 -  Homo sapiens

RGD ID: 38471100
RS ID: rs759790041
ClinVar ID: CV939330
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 46,751,461
GRCh38 22 46,355,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282783.2:c.574C>T
NM_001282784.2:c.574C>T
NM_001282782.2:c.652C>T
NR_104240.2:n.990C>T
More... 		02/23/2022 non-coding transcript variant pathogenic|likely pathogenic DEAFNESS, STREPTOMYCIN-INDUCED; none provided; STREPTOMYCIN OTOTOXICITY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:XM_047441444
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWIILGQMPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHV
LQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVA
PRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHF*FRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFY
KGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_047441445
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGG
LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR
EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHF*FRHQMALVCCVLQGGRVPGQRE
DPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:NM_001282785
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHF*FRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:NM_018006
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHF*FRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA
GMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282784
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMG
MCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
YRDLLRTSRVHWIAEEPPAALVRDKMMECHF*FRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530272
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLLIPPPDGTSALCADPQSRWHRVG
DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_047441446
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWIILGQMPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHV
LQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVA
PRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHF*FRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQS
WDGH*

Gene Symbol:TRMU
Accession:NM_001282782
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGG
LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR
EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHF*FRHQMALVPCVLTLNQDGTVWV
TAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282783
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMG
MCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
YRDLLRTSRVHWIAEEPPAALVRDKMMECHF*FRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGS
GKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_011530273
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLLIPPPDGTSLLCSTRGTSAWAAG
RSCGWGRLPTRSRRASAELGWPLRAPVTAQKMVQA*

Gene Symbol:TRMU
Accession:NR_104241
Location:EXON;NON-CODING

Gene Symbol:TRMU
Accession:NR_104240
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:19732863   PMID:23625533   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001213660 CLINVAR
  RCV003473761 CLINVAR
dbSNP (RS) rs759790041 CLINVAR
MedGen C1838854 CLINVAR
  C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 580000 CLINVAR
  610230 CLINVAR