RGD:329393825 Rat Genome Database

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Variant: RGD:329393825 -  Homo sapiens

RGD ID: 329393825
ClinVar ID: CV2472148
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENOO  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 50,655,634
GRCh38 22 50,217,205
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.1846G>A
NG_032160.1:g.32767C>T
NG_032160.2:g.32818C>T
NC_000022.11:g.50217205G>A
More... 		03/13/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SELENOO
Accession:NM_031454
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 616
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVYRAALGASLAAARLLPLGRCSPSPAPRSTLSGAAMEPAPRWLAGLRFDNRALRALPVEAPPPGPEGAPSAPRPVPGA
CFTRVQPTPLRQPRLVALSEPALALLGLGAPPAREAEAEAALFFSGNALLPGAEPAAHCYCGHQFGQFAGQLGDGAAMYL
GEVCTATGERWELQLKGAGPTPFSRQADGRKVLRSSIREFLCSEAMFHLGVPTTRAGACVTSESTVVRDVFYDGNPKYEQ
CTVVLRVASTFIRFGSFEIFKSADEHTGRAGPSVGRNDIRVQLLDYVISSFYPEIQAAHASDSVQRNAAFFREVTRRTAR
MVAEWQCVGFCHGVLNTDNMSILGLTIDYGPFGFLDRYDPDHVCNASDNTGRYAYSKQPEVCRWNLRKLAEALQPELPLE
LGEAILAEEFDAEFQRHYLQKMRRKLGLVQVELEEDGALVSKLLETMHLTGADFTNTFYLLSSFPVELESPGLAEFLARL
MEQCASLEELRLAFRPQMDPRQLSMMLMLAQSNPQLFALMGTRAGIARELERVEQQSRLEQLSAAELQSRNQGHWADWLQ
AYRARLDKDLEGAGDAAAWQAEHVRVMHANNPKYVLRNYIAQNAIEAAERGDFSEMRRVLKLLETPYHCEAGAATDAEAT
EADGADGRQRSYSSKPPLWAAELCVT*SS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004283274 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SELENOO CLINVAR
OMIM 607917 CLINVAR