RGD:13532729 Rat Genome Database

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Variant: RGD:13532729 -  Homo sapiens

RGD ID: 13532729
RS ID: rs757964630
ClinVar ID: CV507701
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  POLR3H  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 41,923,345
GRCh38 22 41,527,341
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.10:g.41923345G>C
NG_032143.1:g.63217G>C
NC_000022.11:g.41527341G>C
NP_001089.1:p.Ser669=
More... 		01/16/2018 3 prime utr variant|synonymous variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:POLR3H
Accession:NM_001282884
Location:3UTRS;EXON

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

Gene Symbol:POLR3H
Accession:NM_001282885
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_001018050
Location:3UTRS;EXON

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

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

Gene Symbol:ACO2
Accession:NM_001098
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 669
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 RCV000601456 CLINVAR
  RCV002066550 CLINVAR
dbSNP (RS) rs757964630 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACO2 CLINVAR
  POLR3H CLINVAR
OMIM 100850 CLINVAR
  619801 CLINVAR