RGD:329371646 Rat Genome Database

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Variant: RGD:329371646 -  Homo sapiens

RGD ID: 329371646
ClinVar ID: CV2432039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENOO  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 50,639,817
GRCh38 22 50,201,388
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031454.2:c.352G>T
NC_000022.11:g.50201388G>T
NC_000022.10:g.50639817G>T
NM_031454.1:c.352G>T
More... 		03/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SELENOO
Accession:NM_031454
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVYRAALGASLAAARLLPLGRCSPSPAPRSTLSGAAMEPAPRWLAGLRFDNRALRALPVEAPPPGPEGAPSAPRPVPGA
CFTRVQPTPLRQPRLVALSEPALALLGLGAPPAREAESEAALFFSGNALLPGAEPAAHCYCGHQFGQFAGQLGDGAAMYL
GEVCTATGERWELQLKGAGPTPFSRQADGRKVLRSSIREFLCSEAMFHLGVPTTRAGACVTSESTVVRDVFYDGNPKYEQ
CTVVLRVASTFIRFGSFEIFKSADEHTGRAGPSVGRNDIRVQLLDYVISSFYPEIQAAHASDSVQRNAAFFREVTRRTAR
MVAEWQCVGFCHGVLNTDNMSILGLTIDYGPFGFLDRYDPDHVCNASDNTGRYAYSKQPEVCRWNLRKLAEALQPELPLE
LGEAILAEEFDAEFQRHYLQKMRRKLGLVQVELEEDGALVSKLLETMHLTGADFTNTFYLLSSFPVELESPGLAEFLARL
MEQCASLEELRLAFRPQMDPRQLSMMLMLAQSNPQLFALMGTRAGIARELERVEQQSRLEQLSAAELQSRNQGHWADWLQ
AYRARLDKDLEGAGDAAAWQAEHVRVMHANNPKYVLRNYIAQNAIEAAERGDFSEVRRVLKLLETPYHCEAGAATDAEAT
EADGADGRQRSYSSKPPLWAAELCVT*SS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004249190 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SELENOO CLINVAR
OMIM 607917 CLINVAR