RGD:151849760 Rat Genome Database

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Variant: RGD:151849760 -  Homo sapiens

RGD ID: 151849760
RS ID: rs2119445897
ClinVar ID: CV1427696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 90,773,966
GRCh38 10 89,014,209
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152872.4:c.*79A>G
NM_001320619.2:c.*90A>G
NM_152871.4:c.704A>G
NM_000043.6:c.767A>G
More... 		09/24/2021 3 prime utr variant uncertain significance Autoimmune lymphoproliferative syndrome type 1, autosomal dominant; AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FAS
Accession:NM_152872
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_001320619
Location:3UTRS;EXON

Gene Symbol:FAS
Accession:NM_001410956
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP
GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP
CTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS
DVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCT
LAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP
GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP
CTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLS
DVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCT
LAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:NM_000043
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 256
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP
DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
SNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVM
TLSQVKGFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITS
DSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:NM_152871
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLGIWTLLPLVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEP
DCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLT
SNTKCKEEVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDE
IKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_006717819
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLH
HDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNF
FCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESP
TLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDT
LIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_047425178
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSADPAGQAGQLRRSSETTALHVEVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPP
GERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDP
CTKCEHGIIKECTLTSNTKCKEEVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVK
GFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSN
FRNEIQSLV*

Gene Symbol:FAS
Accession:XM_011539766
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQVTDINSKGLELRKTVTTVETQNLEGLH
HDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRLCDEGHGLEVEINCTRTQNTKCRCKPNF
FCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPLIVWVKRKEVQKTCRKHRKENQGSHESP
TLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGKKEAYDT
LIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_011539764
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 310
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFPEQRLLLLHVSFPERGINITWELMLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQ
VTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRL
CDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEGSRSNLGWLCLLLLPIPL
IVWVKRKEVQKTCRKHRKENQGSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDEIKNDN
VQDTAEQKVQLLRNWHQLHGKKEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:XM_011539765
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGFPEQRLLLLHVSFPERGINITWELMLRVCAQGWHAQGLPHGTNSLLKGGTETSLSTPTRLVVLTSVARLSSKSVNAQ
VTDINSKGLELRKTVTTVETQNLEGLHHDGQFCHKPCPPGERKARDCTVNGDEPDCVPCQEGKEYTDKAHFSSKCRRCRL
CDEGHGLEVEINCTRTQNTKCRCKPNFFCNSTVCEHCDPCTKCEHGIIKECTLTSNTKCKEEVKRKEVQKTCRKHRKENQ
GSHESPTLNPETVAINLSDVDLSKYITTIAGVMTLSQVKGFVRKNGVNGAKIDEIKNDNVQDTAEQKVQLLRNWHQLHGK
KEAYDTLIKDLKKANLCTLAEKIQTIILKDITSDSENSNFRNEIQSLV*

Gene Symbol:FAS
Accession:NR_028034
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_028036
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_028033
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_028035
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_135315
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_135314
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:NR_135313
Location:EXON;NON-CODING

Gene Symbol:FAS
Accession:XM_047425179
Location:INTRON

Gene Symbol:FAS
Accession:XM_047425180
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001922613 CLINVAR
dbSNP (RS) rs2119445897 CLINVAR
MedGen C1328840 CLINVAR
NCBI Gene FAS CLINVAR
OMIM 134637 CLINVAR
  601859 CLINVAR