RGD:405063590 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:405063590 -  Homo sapiens

RGD ID: 405063590
ClinVar ID: CV3148507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127460100  SLC25A32  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 104,427,146
GRCh38 8 103,414,918
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_015420.6:c.-73G>T
NM_030780.5:c.20C>A
NG_114869.2:g.246G>T
NG_047200.1:g.5418C>A
More...
12/24/2022 non-coding transcript variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:SLC25A32
Accession:NM_030780
Location:EXON
Amino Acid Prediction: S to * (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGQGQ*ASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLDLVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRG
LYQGVTPNIWGAGLSWGLYFFFYNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPH
RQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLPEAQLSTVEYISVAALSKIFAVA
ATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVGGFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK*

Gene Symbol:SLC25A32
Accession:NR_102337
Location:EXON;NON-CODING

Gene Symbol:SLC25A32
Accession:NR_102338
Location:EXON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003850463 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC25A32 CLINVAR
OMIM 138480 CLINVAR