RGD:401899180 Rat Genome Database

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Variant: RGD:401899180 -  Homo sapiens

RGD ID: 401899180
ClinVar ID: CV2783732
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIRPB1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 20 1,559,110
GRCh38 20 1,578,464
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330639.2:c.304T>C
NM_001083910.4:c.307T>C
NM_006065.5:c.307T>C
NC_000020.11:g.1578464A>G
More... 		09/14/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SIRPB1
Accession:NM_001083910
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYN
QKEGHFPRVTTVSELTKRNNLDLSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVALLL
GPKLLLVVGVSAIYICWKQKA*

Gene Symbol:SIRPB1
Accession:NM_006065
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYN
QKEGHFPRVTTVSELTKRNNLDLSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRAT
PEHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLR
GTANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTC
AHRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHEAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA*

Gene Symbol:SIRPB1
Accession:XM_005260641
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHPPCPFLLLTLLLGLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQ
KEGHFPRVTTVSELTKRNNLDLSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRATP
EHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLRG
TANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTCA
HRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHEAALAPTAPLLVALLLGPKLLLVVGVSAIYICWKQKA*

Gene Symbol:SIRPB1
Accession:NM_001330639
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHPPCPFLLLTLLLGLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQ
KEGHFPRVTTVSELTKRNNLDLSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVALLLG
PKLLLVVGVSAIYICWKQKA*

Gene Symbol:SIRPB1
Accession:NM_001135844
Location:INTRON

Gene Symbol:SIRPB1
Accession:NM_001329157
Location:INTRON

Gene Symbol:SIRPB1
Accession:XR_007067441
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004360651 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SIRPB1 CLINVAR
OMIM 603889 CLINVAR