RGD:127249425 Rat Genome Database

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Variant: RGD:127249425 -  Homo sapiens

RGD ID: 127249425
RS ID: rs2147114137
ClinVar ID: CV1086056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 46,751,454
GRCh38 22 46,355,557
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282785.2:c.987C>T
NM_018006.5:c.987C>T
NG_012173.1:g.25157C>T
NC_000022.11:g.46355557C>T
More... 		08/22/2020 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_001282783
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMG
MCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
YRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGS
GKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_047441445
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGG
LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR
EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQRE
DPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:NM_001282785
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:NM_018006
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA
GMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282782
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 215
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMCSGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNAVKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGG
LTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLR
EPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWV
TAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_011530272
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVSLPIPPPDGTSALCADPQSRWHRVG
DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530273
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 296
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVSLPIPPPDGTSLLCSTRGTSAWAAG
RSCGWGRLPTRSRRASAELGWPLRAPVTAQKMVQA*

Gene Symbol:TRMU
Accession:NM_001282784
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMG
MCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPAL
YRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_047441444
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWIILGQMPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHV
LQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVA
PRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFY
KGDECLGSGKILRLGPSAYTLQKGQRRAGMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_047441446
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWIILGQMPLPQVTMQELPWKMKKSLSRSTLRSPKGFSEIGLKLEMVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHV
LQKKESMGMCFIGKRNFEHFLLQYLQPRPGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVA
PRTDHPALYRDLLRTSRVHWIAEEPPAALVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQS
WDGH*

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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001399596 CLINVAR
dbSNP (RS) rs2147114137 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR