RGD:15122577 Rat Genome Database

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Variant: RGD:15122577 -  Homo sapiens

RGD ID: 15122577
RS ID: rs1322564800
ClinVar ID: CV786610
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  POLR3H  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,924,503
GRCh38 22 41,528,499
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001018052.4:c.*784C>T
NM_001282885.2:c.*784C>T
NM_138338.5:c.*784C>T
NC_000022.10:g.41924503G>A
More... 		12/11/2018 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:POLR3H
Accession:NM_138338
Location:3UTRS;EXON

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

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

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

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

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

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

Gene Symbol:POLR3H
Accession:NM_001018050
Location:3UTRS;EXON

Gene Symbol:ACO2
Accession:NM_001098
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 743
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLNRPLTLSEKIVYGHLDDPASQ
EIERGKSYLRLRPDRVAMQDATAQMAMLQFISSGLSKVAVPSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAK
YGVGFWKPGSGIIHQIILENYAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMAGIPWELKCPKVIGVKLTGSLSG
WSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYNHRMKKYLSKTGREDIANLAD
EFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHPVAEVGKVAEKEGWPLDIRVGLIGSCTNSSYEDMGRSAAVA
KQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLGGIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRN
DANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDADELPKGEFDPGQDTYQHPPKDSSGQHVDVSP
TSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAAGPWLKFRGHLDNISNNLLIGAINIENGKANSVRNAVTQEF
GPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAALEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHP
VDKLTIQGLKDFTPGKPLKCIIKHPNGTQETILLNHTFNETQIEWFRAGSALNRMKELQQ*

Gene Symbol:POLR3H
Accession:XM_047441182
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000979670 CLINVAR
dbSNP (RS) rs1322564800 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ACO2 CLINVAR
  POLR3H CLINVAR
OMIM 100850 CLINVAR
  619801 CLINVAR