RGD:8634323 Rat Genome Database

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Variant: RGD:8634323 -  Homo sapiens

RGD ID: 8634323
ClinVar ID: CV89543
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFS8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,799,773
GRCh38 11 68,032,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002496.3:c.79C>T
NG_017040.1:g.6690C>T
NC_000011.10:g.68032306C>T
NC_000011.9:g.67799773C>T
More... 		missense|missense variant|2kb upstream variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:NDUFS8
Accession:NM_002496
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 27
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRCLTTPMLLRALAQAARAGPPGGRSFHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLLWTELFRGLGMTLSYLFREPA
TINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAICPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEAC
PVDAIVEGPNFEFSTETHEELLYNKEKLLNNGDKWEAEIAANIQADYLYR*
Variant Samples