RGD:15132506 Rat Genome Database

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Variant: RGD:15132506 -  Homo sapiens

RGD ID: 15132506
RS ID: rs372273291
ClinVar ID: CV786609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 41,916,255
GRCh38 22 41,520,251
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001098.3:c.1113A>G
NG_032143.1:g.56127A>G
NC_000022.11:g.41520251A>G
NC_000022.10:g.41916255A>G
More... 		12/01/2022 synonymous variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:ACO2
Accession:NM_001098
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 371
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLNRPLTLSEKIVYGHLDDPASQ
EIERGKSYLRLRPDRVAMQDATAQMAMLQFISSGLSKVAVPSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAK
YGVGFWKPGSGIIHQIILENYAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMAGIPWELKCPKVIGVKLTGSLSG
WSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYNHRMKKYLSKTGREDIANLAD
EFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHPVAEVGKVAEKEGWPLDIRVGLIGSCTNSSYEDMGRSAAVA
KQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLGGIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRN
DANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDADELPKGEFDPGQDTYQHPPKDSSGQHVDVSP
TSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAAGPWLKFRGHLDNISNNLLIGAINIENGKANSVRNAVTQEF
GPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAALEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHP
VDKLTIQGLKDFTPGKPLKCIIKHPNGTQETILLNHTFNETQIEWFRAGSALNRMKELQQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000981393 CLINVAR
  RCV001700684 CLINVAR
dbSNP (RS) rs372273291 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACO2 CLINVAR
OMIM 100850 CLINVAR