RGD:401918835 Rat Genome Database

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Variant: RGD:401918835 -  Homo sapiens

RGD ID: 401918835
ClinVar ID: CV2821380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SUPT20HL1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 24,382,179
GRCh38 X 24,364,062
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136234.3:c.1302G>A
NC_000023.11:g.24364062G>A
NC_000023.10:g.24382179G>A
NP_001129706.3:p.Gln434=
 05/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SUPT20HL1
Accession:NM_001136234
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 434
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDRDLEQALDRAENIIEIAQQRPPRRRYSPRAGKTLQEKLYDIYVEECGKEPEDPQELRSNVNLLEKLVRRESLPCLLVN
LYPGNQGYSVMLQREDGSFAETIRLPYEERALLDYLDAEELPPALGDVLDKASVNIFHSGCVIVEVRDYRQSSNMQPPGY
QSRHILLRPTMQTLAHDVKMMTRDGQKWSQEDKLQLESQLILATAEPLCLDPSVAVACTANRLLYNKQKMNTDPMKRCLQ
RYSWPSVKPQQEQSDCPPPPELRVSTSGQKEERKVGQPCELNIAKAGSCVDTWKGRPCDLAVPSEVDVEKLAKGYQSVTA
ADPQLPVWPAQEVEDPFGFALEAGCQAWDTKPSIMQSFNDPLLCGKIRPRKKARQKSQKSPWQPFPDDHSACLRPGSETD
AGRAVSQAQESVQSKVKGPGKMSHSSSGPASVSQLSSWKTPEQPDPVWVQSSVSGKGEKHPPPRTQLPSSSGKISSGNSF
PPQQAGSPLKRPFSAAAAIAAAAAAAAAAAAAAAAAAPAPALAAAAAPALAAAAAPALAAAAAPAPAPAAAPAVAAAPAA
AASAAPSHSQKPSVPLIQASRPCPAAQPPTKFIKIAPAIQLRTGSTGLKAINVEGPVQGAQALGSSFKPVQAPGSGAPAP
AGISGSDLQSSGGPLPDARPGAVQASSPAPLQFFLNTPEGLRPLTLLQVPQGSAVLTGPQQQSHQLVSLQQLQQPTAAHP
PQPGPQGSALGLSTQGQAFPAQQLLKVNPTRARSGLQPQPQPAVLSLLGSAQVPQQGVQLPSVLRQQQPQPQPPKLQLQP
QWQPKPRQEQPQSQQQQPQHIQLQTQQLRVLQQPQHIQLQTQQLRVLQQPVFLATGAVQIVQPHPGVQVGSQLVDQRKEG
KPTPPAP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003430471 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SUPT20HL1 CLINVAR