RGD:12842597 Rat Genome Database

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Variant: RGD:12842597 -  Homo sapiens

RGD ID: 12842597
RS ID: rs201011707
ClinVar ID: CV378657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 22 19,163,978
GRCh38 22 19,176,465
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.468G>C
NM_005984.5:c.777G>C
NM_001256534.2:c.798G>C
NG_033863.1:g.7399G>C
More... 		10/14/2016 non-coding transcript variant|synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SLC25A1
Accession:NM_001256534
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 266
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPAALARRPRRPKSGTGEGPERQRPGGSLRSGFPVPAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQ
TVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHD
QTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAA
SVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD*

Gene Symbol:SLC25A1
Accession:NM_001287387
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQG
LTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCG
LQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD*

Gene Symbol:SLC25A1
Accession:NM_005984
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGV
LGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPK
YRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTP
LDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTD*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000434707 CLINVAR
dbSNP (RS) rs201011707 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SLC25A1 CLINVAR
OMIM 190315 CLINVAR