RGD:156399399 Rat Genome Database

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Variant: RGD:156399399 -  Homo sapiens

RGD ID: 156399399
ClinVar ID: CV2205097
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 19,163,941
GRCh38 22 19,176,428
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287387.2:c.505C>A
NM_005984.5:c.814C>A
NM_001256534.2:c.835C>A
NG_033863.1:g.7436C>A
More... 		05/11/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A1
Accession:NM_005984
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGV
LGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPK
YRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTP
LDVIKTRMQGLEAHKYRNTWDCGLQILKKEGIKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD*

Gene Symbol:SLC25A1
Accession:NM_001256534
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 279
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPAALARRPRRPKSGTGEGPERQRPGGSLRSGFPVPAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQ
TVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHD
QTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAA
SVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGIKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD*

Gene Symbol:SLC25A1
Accession:NM_001287387
Location:EXON
Amino Acid Prediction: L to I (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQG
LTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCG
LQILKKEGIKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD*

Gene Symbol:SLC25A1
Accession:NR_046298
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002656013 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SLC25A1 CLINVAR
OMIM 190315 CLINVAR