RGD:156222499 Rat Genome Database

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Variant: RGD:156222499 -  Homo sapiens

RGD ID: 156222499
ClinVar ID: CV2208997
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERTAD3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 40,947,860
GRCh38 19 40,441,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_203344.3:c.128G>A
NC_000019.10:g.40441953C>T
NC_000019.9:g.40947860C>T
NM_013368.3:c.128G>A
More... 		08/12/2021 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SERTAD3
Accession:NM_203344
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGGLKRKHSDLEEEEERWEWSPAGLQSYQQALLRISLDKVQHSLGPRAPSLRRHVLIHNTLQQLQAALRLAPAPALPPE
PLFLGEEDFSLSATIGSILRELDTSMDGTEPPQNPVTPLGLQNEVPPQPDPVFLEALSSRYLGDSGLDDFFLDIDTSAVE
KEPARAPPEPPHNLFCAPGSWEWNELDHIMEIILGS*

Gene Symbol:SERTAD3
Accession:NM_013368
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGGLKRKHSDLEEEEERWEWSPAGLQSYQQALLRISLDKVQHSLGPRAPSLRRHVLIHNTLQQLQAALRLAPAPALPPE
PLFLGEEDFSLSATIGSILRELDTSMDGTEPPQNPVTPLGLQNEVPPQPDPVFLEALSSRYLGDSGLDDFFLDIDTSAVE
KEPARAPPEPPHNLFCAPGSWEWNELDHIMEIILGS*

Gene Symbol:SERTAD3
Accession:XM_006723179
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGGLKRKHSDLEEEEERWEWSPAGLQSYQQALLRISLDKVQHSLGPRAPSLRRHVLIHNTLQQLQAALRLAPAPALPPE
PLFLGEEDFSLSATIGSILRELDTSMDGTEPPQNPVTPLGLQNEVPPQPDPVFLEALSSRYLGDSGLDDFFLDIDTSAVE
KEPARAPPEPPHNLFCAPGSWEWNELDHIMEIILGS*

Gene Symbol:SERTAD3
Accession:XM_047438718
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGGLKRKHSDLEEEEERWEWSPAGLQSYQQALLRISLDKVQHSLGPRAPSLRRHVLIHNTLQQLQAALRLAPAPALPPE
PLFLGEEDFSLSATIGSILRELDTSMDGTEPPQNPVTPLGLQNEVPPQPDPVFLEALSSRYLGDSGLDDFFLDIDTSAVE
KEPARAPPEPPHNLFCAPGSWEWNELDHIMEIILGS*

Gene Symbol:SERTAD3
Accession:XM_047438716
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITQLSSFQYRIQIWGSLLPIQGIMVGGLKRKHSDLEEEEERWEWSPAGLQSYQQALLRISLDKVQHSLGPRAPSLRRHV
LIHNTLQQLQAALRLAPAPALPPEPLFLGEEDFSLSATIGSILRELDTSMDGTEPPQNPVTPLGLQNEVPPQPDPVFLEA
LSSRYLGDSGLDDFFLDIDTSAVEKEPARAPPEPPHNLFCAPGSWEWNELDHIMEIILGS*

Gene Symbol:SERTAD3
Accession:XM_047438717
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 67
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITQLSSFQYRIQIWGSLLPIQGIMVGGLKRKHSDLEEEEERWEWSPAGLQSYQQALLRISLDKVQHSLGPRAPSLRRHV
LIHNTLQQLQAALRLAPAPALPPEPLFLGEEDFSLSATIGSILRELDTSMDGTEPPQNPVTPLGLQNEVPPQPDPVFLEA
LSSRYLGDSGLDDFFLDIDTSAVEKEPARAPPEPPHNLFCAPGSWEWNELDHIMEIILGS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004093254 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SERTAD3 CLINVAR
OMIM 612125 CLINVAR