RGD:156062523 Rat Genome Database

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Variant: RGD:156062523 -  Homo sapiens

RGD ID: 156062523
ClinVar ID: CV2323249
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SBSPON  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 73,979,601
GRCh38 8 73,067,366
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_153225.4:c.770C>T
NC_000008.11:g.73067366G>A
NC_000008.10:g.73979601G>A
NM_153225.3:c.770C>T
More... 		12/28/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SBSPON
Accession:XM_017013145
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDHEWHRKARPCFVGEWSPWSGCADQCKPTTRVRRRSVQQEPQNGGAPCPPLEERAGCLEYSTPQGQDCGHTYVPAFIT
TSAFNKERTRQATSPHWSTHTEDAGYCMEFKTESLTPHCALENWPLTRWMQYLREGYTVCVDCQPPAMNSVSLRCSGDGL
DSDGNQTLHWQAIGNPRCQGTWKKVRRVDQCSCPVVHSFIFI*

Gene Symbol:SBSPON
Accession:XM_047421408
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 223
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGIEKLARASWGNGAPGVVVQTSASLQPVCGGARCSRSLRTAGRPAHPWKRELAAWSTPPRRARTAGTPMTSDPRPAFV
TPHCVRGRYEILKANLIYFHVQIPAFITTSAFNKERTRQATSPHWSTHTEDAGYCMEFKTESLTPHCALENWPLTRWMQY
LREGYTVCVDCQPPAMNSVSLRCSGDGLDSDGNQTLHWQAIGNPRCQGTWKKVRRVDQCSCPVVHSFIFI*

Gene Symbol:SBSPON
Accession:NM_153225
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTLWMALCALSRLWPGAQAGCAEAGRCCPGRDPACFARGWRLDRVYGTCFCDQACRFTGDCCFDYDRACPARPCFVGEW
SPWSGCADQCKPTTRVRRRSVQQEPQNGGAPCPPLEERAGCLEYSTPQGQDCGHTYVPAFITTSAFNKERTRQATSPHWS
THTEDAGYCMEFKTESLTPHCALENWPLTRWMQYLREGYTVCVDCQPPAMNSVSLRCSGDGLDSDGNQTLHWQAIGNPRC
QGTWKKVRRVDQCSCPVVHSFIFI*

Gene Symbol:SBSPON
Accession:XM_024447081
Location:INTRON

Gene Symbol:SBSPON
Accession:XR_928762
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004187637 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SBSPON CLINVAR