RGD:151757245 Rat Genome Database

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Variant: RGD:151757245 -  Homo sapiens

RGD ID: 151757245
RS ID: rs774515822
ClinVar ID: CV1508990
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD40  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,757,623
GRCh38 20 46,128,984
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001302753.2:c.*104C>T
NM_001362758.2:c.*104C>T
NM_152854.4:c.*104C>T
NM_001322422.2:c.622C>T
More... 		10/10/2021 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CD40
Accession:NM_001302753
Location:3UTRS;EXON

Gene Symbol:CD40
Accession:NM_152854
Location:3UTRS;EXON

Gene Symbol:CD40
Accession:NM_001362758
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIGPQDRLRALVVIPIIFGILFAILLVL
VFISESSEKVAKKPTNKAPHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQSVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:NM_001322421
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 264
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFISESSEKVAKKPTNKAPHPKQEPQEI
NFPDDLPGSNTAAPVQETLHGCQSVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:XM_017028135
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 271
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGESWTMGPGESLGRSPGSAESPGGDPHHLRDPVCHPLGAGLYQWPRSQPIRPPT
PSRNPRRSIFPTIFLAPTLLLQCRRLYMDANRSPRRMAKRVASQCRRDSEAAPTQECGHVGKQAVGQRAWCCCCCGVRVR
GWH*

Gene Symbol:CD40
Accession:NM_001322422
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 208
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIGPQDRLRALVVIPIIFGILFAILLVL
VFIKKVAKKPTNKAPHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQSVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:XM_047440601
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLARLWGQADCCETKDLVVQQAGTNKTDVVCGESWTMGPGESLGRSPGSAESPGGDPHHLRDPVCHPLGAGLYQWPRSQP
IRPPTPSRNPRRSIFPTIFLAPTLLLQCRRLYMDANRSPRRMAKRVASQCRRDSEAAPTQECGHVGKQAVGQRAWCCCCC
GVRVRGWH*

Gene Symbol:CD40
Accession:NM_001250
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNKAPHPKQEPQEINFPD
DLPGSNTAAPVQETLHGCQSVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:XM_017028136
Location:EXON
Amino Acid Prediction: N to N (synonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTRSPGSAESPGGDPHHLRDPVCHPLGAGLYQWPRSQPIRPPTPSRNPRRSIFPTIFLAPTLLLQCRRLYMDANRSP
RRMAKRVASQCRRDSEAAPTQECGHVGKQAVGQRAWCCCCCGVRVRGWH*

Gene Symbol:CD40
Accession:NM_001424339
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCTEFTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIGPQDRLRALVVIPIIFGILFAILLVL
VFISESSEKVAKKPTNKAPHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQSVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:NR_136327
Location:EXON;NON-CODING

Gene Symbol:CD40
Accession:NR_126502
Location:EXON;NON-CODING

Gene Symbol:CD40
Accession:XM_011529109
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002023974 CLINVAR
dbSNP (RS) rs774515822 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CD40 CLINVAR
OMIM 109535 CLINVAR