RGD:407454305 Rat Genome Database

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Variant: RGD:407454305 -  Homo sapiens

RGD ID: 407454305
ClinVar ID: CV3490902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124901889  TRMT9B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 12,878,973
GRCh38 8 13,021,464
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001099677.1:c.407G>A
NM_020844.3:c.785G>A
NC_000008.11:g.13021464G>A
NC_000008.10:g.12878973G>A
More... 		06/17/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TRMT9B
Accession:NM_020844
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 262
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHEAAQLEKQHVHNVYESTAPYFSDLQSKAWPRVRQFLQEQKPGSLIADIGCGTGKYLKVNSQVHTVGCDYCGPLVEIA
RNRGCEAMVCDNLNLPFRDEGFDAIISIGVIHHFSTKQRRIRAIKEMARVLVPGGQLMIYVWAMEQKNRHFEKQDVLVPW
NRALCSQLFSESSQSGRKRQCGYPERGHPYHPPCSECSCSVCFKEQCGSKRSHSVGYEPAMARTCFANISKEGEEEYGFY
STLGKSFRSWFFSRSLDESTLKKQIERVRPLKNTEVWASSTVTVQPSRHSSLDFDHQEPFSTKGQSLDEEVFVESSSGKH
LEWLRAPGTLKHLNGDHQGEMRRNGGGNFLDSTNTGVNCVDAGNIEDDNPSASKILRRISAVDSTDFNPDDTMSVEDPQT
DVLDSTAFMRYYHVFREGELCSLLKENVSELRILSSGNDHGNWCIIAEKKRGCD*

Gene Symbol:TRMT9B
Accession:NM_001099677
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARVLVPGGQLMIYVWAMEQKNRHFEKQDVLVPWNRALCSQLFSESSQSGRKRQCGYPERGHPYHPPCSECSCSVCFKEQ
CGSKRSHSVGYEPAMARTCFANISKEGEEEYGFYSTLGKSFRSWFFSRSLDESTLKKQIERVRPLKNTEVWASSTVTVQP
SRHSSLDFDHQEPFSTKGQSLDEEVFVESSSGKHLEWLRAPGTLKHLNGDHQGEMRRNGGGNFLDSTNTGVNCVDAGNIE
DDNPSASKILRRISAVDSTDFNPDDTMSVEDPQTDVLDSTAFMRYYHVFREGELCSLLKENVSELRILSSGNDHGNWCII
AEKKRGCD*

Gene Symbol:LOC124901889
Accession:XR_007060828
Location:INTRON;NON-CODING

Gene Symbol:LOC124901889
Accession:XR_007060827
Location:INTRON;NON-CODING

Gene Symbol:LOC124901889
Accession:XR_007060825
Location:INTRON;NON-CODING

Gene Symbol:LOC124901889
Accession:XR_007060826
Location:INTRON;NON-CODING

Gene Symbol:LOC124901889
Accession:XR_007060829
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004685001 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TRMT9B CLINVAR
OMIM 615666 CLINVAR