RGD:401931038 Rat Genome Database

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Variant: RGD:401931038 -  Homo sapiens

RGD ID: 401931038
ClinVar ID: CV2795648
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAAP24  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 33,467,576
GRCh38 19 32,976,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001300978.2:c.351G>A
NM_152266.5:c.636G>A
NC_000019.10:g.32976670G>A
NC_000019.9:g.33467576G>A
More... 		11/12/2023 synonymous variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FAAP24
Accession:NM_001300978
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSEQYFPALQKFTVLDLGMVLLPVASQMEASCLVIQLVQEQTKEPSKNPLLGKKRALLLSEPSLLRTVQQIPGVGKVKAP
LLLQKFPSIQQLSNASIGELEQVVGQAVAQQIHAFFTQPR*

Gene Symbol:FAAP24
Accession:XM_005259393
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARVTAGAGDARCCILYVTEADLVAGNGYRKRLVRVRNSNNLKGIVVVEKTRMSEQYFPALQKFTVLDLGMVLLPVASQM
EASCLVIQLVQEQTKEPSKNPLLGKKRALLLSEPSLLRTVQQIPGVGKVKAPLLLQKFPSIQQLSNASIGELEQVVGQAV
AQQIHAFFTQPR*

Gene Symbol:FAAP24
Accession:NM_152266
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 212
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKNPPDDTGPVHVPLGHIVANEKWRGSQLAQEMQGKIKLIFEDGLTPDFYLSNRCCILYVTEADLVAGNGYRKRLVRVR
NSNNLKGIVVVEKTRMSEQYFPALQKFTVLDLGMVLLPVASQMEASCLVIQLVQEQTKEPSKNPLLGKKRALLLSEPSLL
RTVQQIPGVGKVKAPLLLQKFPSIQQLSNASIGELEQVVGQAVAQQIHAFFTQPR*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003391210 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FAAP24 CLINVAR
OMIM 610884 CLINVAR