RGD:150527987 Rat Genome Database

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Variant: RGD:150527987 -  Homo sapiens

RGD ID: 150527987
RS ID: rs747898560
ClinVar ID: CV1301006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  POLR3H  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,923,373
GRCh38 22 41,527,369
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098.2:c.2035C>T
NP_001089.1:p.Arg679Cys
NM_001018050.4:c.*1914G>A
NC_000022.10:g.41923373C>T
More... 		10/17/2022 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:POLR3H
Accession:NM_001018050
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:NM_001018052
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:NM_138338
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:NM_001282885
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:NM_001282884
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:XM_011529993
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:XM_047441181
Location:3UTRS;EXON

Gene Symbol:POLR3H
Accession:XM_047441180
Location:3UTRS;EXON

Gene Symbol:ACO2
Accession:NM_001098
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 679
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLNRPLTLSEKIVYGHLDDPASQ
EIERGKSYLRLRPDRVAMQDATAQMAMLQFISSGLSKVAVPSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAK
YGVGFWKPGSGIIHQIILENYAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMAGIPWELKCPKVIGVKLTGSLSG
WSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYNHRMKKYLSKTGREDIANLAD
EFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHPVAEVGKVAEKEGWPLDIRVGLIGSCTNSSYEDMGRSAAVA
KQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLGGIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRN
DANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDADELPKGEFDPGQDTYQHPPKDSSGQHVDVSP
TSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAAGPWLKFRGHLDNISNNLLIGAINIENGKANSVRNAVTQEF
GPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAALEPCHLGGRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHP
VDKLTIQGLKDFTPGKPLKCIIKHPNGTQETILLNHTFNETQIEWFRAGSALNRMKELQQ*

Gene Symbol:POLR3H
Accession:XM_047441182
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:34056600  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001754866 CLINVAR
dbSNP (RS) rs747898560 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACO2 CLINVAR
  POLR3H CLINVAR
OMIM 100850 CLINVAR
  619801 CLINVAR