RGD:15146039 Rat Genome Database

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Variant: RGD:15146039 -  Homo sapiens

RGD ID: 15146039
RS ID: rs34225633
ClinVar ID: CV711272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FBXO32  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 124,518,695
GRCh38 8 123,506,455
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_148177.3:c.336C>T
NM_001242463.2:c.492C>T
NM_058229.4:c.771C>T
NC_000008.11:g.123506455G>A
More... 		02/07/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FBXO32
Accession:NM_001242463
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPFLGQDWRSPGQNWVKTADGWKRFLDEKSGSFVSDLSSYCNKEVYNKENLFNSLNYDVAAKKRKKDMLNSKTKTQYFHQ
EKWIYVHKGSTKERHGYCTLGEAFNRLDFSTAILDSRRFNYVVRPAFKGLTFTDLPLCLQLNIMQRLSDGRDLVSLGQAA
PDLHVLSEDRLLWKKLCQYHFSERQIRKRLILSDKGQLDWKKMYFKLVRCYPRKEQYGDTLQLCKHCHILSWKGTDHPCT
ANNPESCSVSLSPQDFINLFKF*

Gene Symbol:FBXO32
Accession:NM_148177
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNILEKVVLKVLEDQQNIRLIRELLQTLYTSLCTLVQRVGKSVLVGNINMWVYRMETILHWQQQLNNIQITRPAFKGLTF
TDLPLCLQLNIMQRLSDGRDLVSLGQAAPDLHVLSEDRLLWKKLCQYHFSERQIRKRLILSDKGQLDWKKMYFKLVRCYP
RKEQYGDTLQLCKHCHILSWKGTDHPCTANNPESCSVSLSPQDFINLFKF*

Gene Symbol:FBXO32
Accession:NM_058229
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPFLGQDWRSPGQNWVKTADGWKRFLDEKSGSFVSDLSSYCNKEVYNKENLFNSLNYDVAAKKRKKDMLNSKTKTQYFHQ
EKWIYVHKGSTKERHGYCTLGEAFNRLDFSTAILDSRRFNYVVRLLELIAKSQLTSLSGIAQKNFMNILEKVVLKVLEDQ
QNIRLIRELLQTLYTSLCTLVQRVGKSVLVGNINMWVYRMETILHWQQQLNNIQITRPAFKGLTFTDLPLCLQLNIMQRL
SDGRDLVSLGQAAPDLHVLSEDRLLWKKLCQYHFSERQIRKRLILSDKGQLDWKKMYFKLVRCYPRKEQYGDTLQLCKHC
HILSWKGTDHPCTANNPESCSVSLSPQDFINLFKF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000967100 CLINVAR
dbSNP (RS) rs34225633 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FBXO32 CLINVAR
OMIM 606604 CLINVAR