RGD:127243998 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:127243998 -  Homo sapiens

RGD ID: 127243998
RS ID: rs1277917046
ClinVar ID: CV1086045
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 46,742,431
GRCh38 22 46,346,534
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.107A>G
NM_001282784.2:c.107A>G
NM_001282782.2:c.126A>G
NC_000022.11:g.46346534A>G
More...
01/23/2020 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_018006
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA
GMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282785
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:NM_001282782
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGG
LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR
EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWV
TAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282783
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLRLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMG
MCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
YRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGS
GKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282784
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLRLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMG
MCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
YRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530272
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSALCADPQSRWHRVG
DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530273
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSLLCSTRGTSAWAAG
RSCGWGRLPTRSRRASAELGWPLRAPVTAQKMVQA*

Gene Symbol:TRMU
Accession:XM_047441445
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGG
LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR
EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQRE
DPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_047441444
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWIILGQMPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLRLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHV
LQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVA
PRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFY
KGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_047441446
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWIILGQMPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLRLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHV
LQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVA
PRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQS
WDGH*

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001416280 CLINVAR
dbSNP (RS) rs1277917046 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR