RGD:401926212 Rat Genome Database

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Variant: RGD:401926212 -  Homo sapiens

RGD ID: 401926212
ClinVar ID: CV2819747
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SELENOO  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 50,655,536
GRCh38 22 50,217,107
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.1824C>T
NG_032160.1:g.32865G>A
NG_032160.2:g.32916G>A
NC_000022.11:g.50217107C>T
More...
03/01/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SELENOO
Accession:NM_031454
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 608
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVYRAALGASLAAARLLPLGRCSPSPAPRSTLSGAAMEPAPRWLAGLRFDNRALRALPVEAPPPGPEGAPSAPRPVPGA
CFTRVQPTPLRQPRLVALSEPALALLGLGAPPAREAEAEAALFFSGNALLPGAEPAAHCYCGHQFGQFAGQLGDGAAMYL
GEVCTATGERWELQLKGAGPTPFSRQADGRKVLRSSIREFLCSEAMFHLGVPTTRAGACVTSESTVVRDVFYDGNPKYEQ
CTVVLRVASTFIRFGSFEIFKSADEHTGRAGPSVGRNDIRVQLLDYVISSFYPEIQAAHASDSVQRNAAFFREVTRRTAR
MVAEWQCVGFCHGVLNTDNMSILGLTIDYGPFGFLDRYDPDHVCNASDNTGRYAYSKQPEVCRWNLRKLAEALQPELPLE
LGEAILAEEFDAEFQRHYLQKMRRKLGLVQVELEEDGALVSKLLETMHLTGADFTNTFYLLSSFPVELESPGLAEFLARL
MEQCASLEELRLAFRPQMDPRQLSMMLMLAQSNPQLFALMGTRAGIARELERVEQQSRLEQLSAAELQSRNQGHWADWLQ
AYRARLDKDLEGAGDAAAWQAEHVRVMHANNPKYVLRNYIAQNAIEAAERGDFSEVRRVLKLLETPYHCEAGAATDAEAT
EADGADGRQRSYSSKPPLWAAELCVT*SS*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003437682 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SELENOO CLINVAR
OMIM 607917 CLINVAR