RGD:13833948 Rat Genome Database

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Variant: RGD:13833948 -  Homo sapiens

RGD ID: 13833948
RS ID: rs1569057032
ClinVar ID: CV585188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127896767  TRMU  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 46,731,735
GRCh38 22 46,335,838
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018006.5:c.74G>A
NG_012173.1:g.5438G>A
NC_000022.11:g.46335838G>A
NC_000022.10:g.46731735G>A
More...
09/18/2017 5 prime utr variant|missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


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_018006
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLKRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVPCVLTLNQDGTVWVTAVQAVRALATGQFAVFYKGDECLGSGKILRLGPSAYTLQKGQRRA
GMATESPSDSPEDGPGLSPLL*

Gene Symbol:TRMU
Accession:NM_001282785
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLKRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGWFLYTLGQRANIGGLREPWYVVEKDSVKGDVFVAPRTDHPALYRDLLRTSRVHWIAEEPPAA
LVRDKMMECHFRFRHQMALVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530272
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLKRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
VFSDFLNEYEKGRTPNPDIVCNKHIKFSCFFHYAVDNLGADAIATGHYARTSLEDEEVFEQKHVKKPEGLFRNRFEVRNA
VKLLQAADSFKDQTFFLSQVSQDALRRTIFPLGGLTKEFVKKIAAENRLHHVLQKKESMGMCFIGKRNFEHFLLQYLQPR
PGHFISIEDNKVLGTHKGPPDRPPSPVQGPAEDQPRALDCGGASRSTGPGQDDGVPLPIPPPDGTSALCADPQSRWHRVG
DSCAGCACPCHRTVCCVLQGGRVPGQREDPAAGAVCLHAPEGPAQSWDGH*

Gene Symbol:TRMU
Accession:XM_011530273
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQALRHVVCALSGGVDSAVAALLLKRRGYQVTGVFMKNWDSLDEHGVCTADKDCEDAYRVCQILDIPFHQVSYVKEYWND
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_047441445
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441444
Location:INTRON

Gene Symbol:TRMU
Accession:XM_047441446
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000729340 CLINVAR
  RCV003420292 CLINVAR
dbSNP (RS) rs1569057032 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRMU CLINVAR
OMIM 610230 CLINVAR