RGD:127334543 Rat Genome Database

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Variant: RGD:127334543 -  Homo sapiens

RGD ID: 127334543
RS ID: rs201385595
ClinVar ID: CV1147940
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RANGRF  SLC25A35  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 8,193,206
GRCh38 17 8,289,888
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.8289888G>A
NR_135483.2:n.1483C>T
NR_135484.2:n.1495C>T
NP_001307800.1:p.Gln276Ter
More... 		08/09/2022 3 prime utr variant likely benign Cardiac rhythm disease
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Arrhythmia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:RANGRF
Accession:NM_001177801
Location:3UTRS;EXON

Gene Symbol:RANGRF
Accession:NM_001330127
Location:3UTRS;EXON

Gene Symbol:RANGRF
Accession:NM_001177802
Location:3UTRS;EXON

Gene Symbol:SLC25A35
Accession:XM_047435999
Location:3UTRS;EXON

Gene Symbol:SLC25A35
Accession:XM_047436000
Location:3UTRS;EXON

Gene Symbol:SLC25A35
Accession:NM_001320871
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLMSGLAACGACVFTNPLEVVKTRMQLQGELQAPGTYQRHYRNVFHAFITIGKVDGLAALQKGLAPALLYQFLMNGIR
LGTYGLAEAGGYLHTAEGTHSPARSAAAGAMAGVMGAYLGSPIYMVKTHLQAQAASEIAVGHQYKHQGMFQALTEIGQKH
GLVGLWRGALGGLPRVIVGSSTQLCTFSSTKDLLSQWEIFPPQSWKLALVAAMMSGIAVVLAMAPFDVACTRLYNQPTDA
QGKNRVPKFSATSCSASAPLLGTKDVRIVKGQTGH*LFKVTQAPGCSPILLGTQS*

Gene Symbol:SLC25A35
Accession:NM_001320872
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLMSGLAACGACVFTNPLEVVKTRMQLQGELQAPGTYQRHYRNVFHAFITIGKVDGLAALQKGLAPALLYQFLMNGIR
LGTYGLAEAGGYLHTAEGTHSPARSAAAGAMAGVMGAYLGSPIYMVKTHLQAQAASEIAVGHQYKHQGMFQALTEIGQKH
GLVGLWRGALGGLPRVIVGSSTQLCTFSSTKDLLSQWEIFPPQSWKLALVAAMMSGIAVVLAMAPFDVACTRLYNQPTDA
QGKNRVPKFSATSCSASAPLLGTKDVRIVKGQTGH*LFKVTQAPGCSPILLGTQS*

Gene Symbol:RANGRF
Accession:NM_016492
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPTRDCPLFGGAFSAILPMGAIDVSDLRPVPDNQEVFCHPVTDQSLIVELLELQAHVRGEAAARYHFEDVGGVQGARAV
HVESVQPLSLENLALRGRCQEAWVLSGKQQIAKENQQVAKDVTLHQALLRLPQYQTDLLLTFNQPPPDNRSSLGPENLSP
APWSLGDFEQLVTSLTLHDPNIFGPQ*

Gene Symbol:SLC25A35
Accession:NM_201520
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLMSGLAACGACVFTNPLEVVKTRMQLQGELQAPGTYQRHYRNVFHAFITIGKVDGLAALQKGLAPALLYQFLMNGIR
LGTYGLAEAGGYLHTAEGTHSPARSAAAGAMAGVMGAYLGSPIYMVKTHLQAQAASEIAVGHQYKHQGMFQALTEIGQKH
GLVGLWRGALGGLPRVIVGSSTQLCTFSSTKDLLSQWEIFPPQSWKLALVAAMMSGIAVVLAMAPFDVACTRLYNQPTDA
QGKNRVPKFSATSCSASAPLLGTKDVRIVKGQTGH*LFKVTQAPGCSPILLGTQS*

Gene Symbol:SLC25A35
Accession:NR_135483
Location:EXON;NON-CODING

Gene Symbol:SLC25A35
Accession:NR_135484
Location:EXON;NON-CODING

Gene Symbol:SLC25A35
Accession:XR_007065297
Location:EXON;NON-CODING

Gene Symbol:SLC25A35
Accession:XM_005256641
Location:INTRON

Gene Symbol:SLC25A35
Accession:NM_001320877
Location:INTRON

Gene Symbol:SLC25A35
Accession:NM_001320870
Location:INTRON

Gene Symbol:SLC25A35
Accession:XM_047436001
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001842048 CLINVAR
dbSNP (RS) rs201385595 CLINVAR
MedGen C0003811 CLINVAR
NCBI Gene RANGRF CLINVAR
  SLC25A35 CLINVAR
OMIM 607954 CLINVAR
  610818 CLINVAR
SNOMED CT 698247007 CLINVAR