RGD:8637207 Rat Genome Database

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Variant: RGD:8637207 -  Homo sapiens

RGD ID: 8637207
ClinVar ID: CV92433
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIRPB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 1,546,817
GRCh38 20 1,566,171
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006065.3:c.1181G>A
NM_001083910.2:c.530G>A
NC_000020.11:g.1566171C>T
NC_000020.10:g.1546817C>T
More... 		stop-gain|nonsense not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:SIRPB1
Accession:NM_001083910
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYN
QKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVALLL
GPKLLLVVGVSAIYIC*KQKA*

Gene Symbol:SIRPB1
Accession:NM_006065
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 394
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHLPSPFLLMTLLLGRLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYN
QKEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRAT
PEHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLR
GTANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTC
AHRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHEAALAPTAPLLVALLLGPKLLLVVGVSAIYIC*KQKA*

Gene Symbol:SIRPB1
Accession:XM_005260641
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHPPCPFLLLTLLLGLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQ
KEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVRAKPSAPVVSGPAVRATP
EHTVSFTCESHGFSPRDITLKWFKNGNELSDFQTNVDPAGDSVSYSIHSTARVVLTRGDVHSQVICEIAHITLQGDPLRG
TANLSEAIRVPPTLEVTQQPMRAENQANVTCQVSNFYPRGLQLTWLENGNVSRTETASTLIENKDGTYNWMSWLLVNTCA
HRDDVVLTCQVEHDGQQAVSKSYALEISAHQKEHGSDITHEAALAPTAPLLVALLLGPKLLLVVGVSAIYIC*KQKA*

Gene Symbol:SIRPB1
Accession:NM_001330639
Location:EXON
Amino Acid Prediction: W to * (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVPASWPHPPCPFLLLTLLLGLTGVAGEDELQVIQPEKSVSVAAGESATLRCAMTSLIPVGPIMWFRGAGAGRELIYNQ
KEGHFPRVTTVSELTKRNNLDFSISISNITPADAGTYYCVKFRKGSPDDVEFKSGAGTELSVREAALAPTAPLLVALLLG
PKLLLVVGVSAIYIC*KQKA*

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