RGD:405664085 Rat Genome Database

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Variant: RGD:405664085 -  Homo sapiens

RGD ID: 405664085
ClinVar ID: CV3290389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AP3S2  ARPIN-AP3S2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 90,378,770
GRCh38 15 89,835,538
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.9:g.90378770G>A
NR_037582.2:n.600C>T
NR_023361.2:n.723C>T
NM_001199058.1:c.1162C>T
More... 		09/21/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ARPIN-AP3S2
Accession:NM_001199058
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRIYHDGALRNKAVQSVRLPGAWDPAAHQGGNGVLLEGELIDVSRHSILDTHGRKERYYVLYIRPSHIHRRKFDAKGNE
IEPNFSATRKVNTGFLMSSYKVEAKGDTDRLTPEALKGLVNKPELLALTESLTPDHTVAFWMPESEMEVMELELGAGVRL
KTRGDGPFLDSLAKLEAGTVTKCNFTGDGKTGASWTDNIMAQKCSKGAAAEIREQGDGAEDEEWPEEIQQQIVRETFHLV
LKRDDNICNFLEGGSLIGGSDYKLIYRHYATLYFVFCVDSSESELGILDLIQVFVETLDKCFENVCELDLIFHMDKVHYI
LQEVVMGGMVLETNMNEIVAQIEAQNRLEKSEGGLSAAPARAVSAVKNINLPEIPRNINIGDLNIKVTNLSQFV*

Gene Symbol:AP3S2
Accession:NM_005829
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIQAILVFNNHGKPRLVRFYQRFPEEIQQQIVRETFHLVLKRDDNICNFLEGGSLIGGSDYKLIYRHYATLYFVFCVDSS
ESELGILDLIQVFVETLDKCFENVCELDLIFHMDKVHYILQEVVMGGMVLETNMNEIVAQIEAQNRLEKSEGGLSAAPAR
AVSAVKNINLPEIPRNINIGDLNIKVTNLSQFV*

Gene Symbol:AP3S2
Accession:NR_037582
Location:EXON;NON-CODING

Gene Symbol:AP3S2
Accession:NR_023361
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004418162 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AP3S2 CLINVAR
  ARPIN-AP3S2 CLINVAR
OMIM 602416 CLINVAR