RGD:127278408 Rat Genome Database

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Variant: RGD:127278408 -  Homo sapiens

RGD ID: 127278408
RS ID: rs2147852935
ClinVar ID: CV1086040
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRMU  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 46,733,689
GRCh38 22 46,337,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282782.2:c.-140A>G
NM_001282783.2:c.-159A>G
NM_001282784.2:c.-159A>G
NM_001282785.2:c.96A>G
More... 		11/15/2019 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TRMU
Accession:NM_001282782
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282783
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282784
Location:5UTRS;EXON

Gene Symbol:TRMU
Accession:NM_001282785
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:NM_018006
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA
GMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:XM_011530272
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSALCADPQSRWHRVG
DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530273
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLRRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSLLCSTRGTSAWAAG
RSCGWGRLPTRSRRASAELGWPLRAPVTAQKMVQA*

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

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

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001408457 CLINVAR
dbSNP (RS) rs2147852935 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR