RGD:26895349 Rat Genome Database

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Variant: RGD:26895349 -  Homo sapiens

RGD ID: 26895349
RS ID: rs781784304
ClinVar ID: CV849032
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 19,163,646
GRCh38 22 19,176,133
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.624C>G
NM_005984.5:c.933C>G
NM_001256534.2:c.954C>G
NM_005984.4:c.933C>G
More... 		03/06/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:SLC25A1
Accession:NM_005984
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 311
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAPRAPRALAAAAPASGKAKLTHPGKAILAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQTVRSHGV
LGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPK
YRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTP
LDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTE*

Gene Symbol:SLC25A1
Accession:NM_001287387
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHDQTSPNPKYRGFFHGVREIVREQGLKGTYQG
LTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAASVFGNTPLDVIKTRMQGLEAHKYRNTWDCG
LQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTE*

Gene Symbol:SLC25A1
Accession:NM_001256534
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 318
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFPAALARRPRRPKSGTGEGPERQRPGGSLRSGFPVPAGGLAGGIEICITFPTEYVKTQLQLDERSHPPRYRGIGDCVRQ
TVRSHGVLGLYRGLSSLLYGSIPKAAVRFGMFEFLSNHMRDAQGRLDSTRGLLCGLGAGVAEAVVVVCPMETIKVKFIHD
QTSPNPKYRGFFHGVREIVREQGLKGTYQGLTATVLKQGSNQAIRFFVMTSLRNWYRGDNPNKPMNPLITGVFGAIAGAA
SVFGNTPLDVIKTRMQGLEAHKYRNTWDCGLQILKKEGLKAFYKGTVPRLGRVCLDVAIVFVIYDEVVKLLNKVWKTE*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001063969 CLINVAR
dbSNP (RS) rs781784304 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A1 CLINVAR
OMIM 190315 CLINVAR