RGD:13535691 Rat Genome Database

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Variant: RGD:13535691 -  Homo sapiens

RGD ID: 13535691
RS ID: rs142651093
ClinVar ID: CV507597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACO2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,903,903
GRCh38 22 41,507,899
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032143.1:g.43775C>T
NC_000022.11:g.41507899C>T
NC_000022.10:g.41903903C>T
NP_001089.1:p.Asp94=
More... 		11/01/2022 synonymous variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:ACO2
Accession:NM_001098
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 94
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 RCV000607953 CLINVAR
  RCV000902600 CLINVAR
dbSNP (RS) rs142651093 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ACO2 CLINVAR
OMIM 100850 CLINVAR