RGD:13803078 Rat Genome Database

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Variant: RGD:13803078 -  Homo sapiens

RGD ID: 13803078
RS ID: rs1300529029
ClinVar ID: CV560525
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CASP10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 202,073,971
GRCh38 2 201,209,248
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001206524.2:c.900G>A
NM_032974.5:c.1101G>A
NM_001230.5:c.972G>A
NP_001193453.1:p.Ser300=
More...
08/09/2022 3 prime utr variant|synonymous variant likely benign|uncertain significance Autoimmune lymphoproliferative syndrome type 2; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CASP10
Accession:NM_032976
Location:3UTRS;EXON

Gene Symbol:CASP10
Accession:NM_032974
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA
ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN
GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFT
VHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQA
CQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKT
MEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS*

Gene Symbol:CASP10
Accession:NM_001206542
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA
ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHR
GLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGA
VYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATV
PGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIRGRKRTVWGAKQISATSLPTAISAQTPRPPMRRWSSVS*

Gene Symbol:CASP10
Accession:NM_032977
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA
ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN
GNRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFT
VHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQA
CQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSIL
TAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:CASP10
Accession:NM_001206524
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 300
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA
ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPQESWQNKHAGSN
EILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCP
RLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLK
KLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:CASP10
Accession:NM_001230
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA
ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPRAAVYRMNRNHR
GLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGA
VYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATV
PGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:CASP10
Accession:XM_005246907
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 366
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKSQGQHWYSSSDKNCKVSFREKLLIIDSNLGVQDVENLKFLCIGLVPNKKLEKSSSASDVFEHLLAEDLLSEEDPFFLA
ELLYIIRQKKLLQHLNCTKEEVERLLPTRQRVSLFRNLLYELSEGIDSENLKDMIFLLKDSLPKTEMTSLSFLAFLEKQG
KIDEDNLTCLEDLCKTVVPKLLRNIEKYKREKAIQIVTPPVDKEAESYQGEEELVSQTDVKTFLEALPESWQNKHAGSNG
NRATNGAPSLVSRGMQGASANTLNSETSTKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTV
HIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQAC
QGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILT
AVNDDVSRRVDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:CASP10
Accession:XM_047446016
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRHSWKPYRSPGKISMQVVMRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKV
EMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSV
SIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVNDDVSRR
VDKQGTKKQMPQPAFTLRKKLVFPVPLDALSL*

Gene Symbol:CASP10
Accession:NM_001306083
Location:INTRON

Gene Symbol:CASP10
Accession:XR_923043
Location:INTRON;NON-CODING

Gene Symbol:CASP10
Accession:XR_923044
Location:INTRON;NON-CODING

Gene Symbol:CASP10
Accession:XR_007082551
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001796774 CLINVAR
dbSNP (RS) rs1300529029 CLINVAR
MedGen C1858968 CLINVAR
NCBI Gene CASP10 CLINVAR
OMIM 601762 CLINVAR
  603909 CLINVAR