RGD:156173048 Rat Genome Database

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Variant: RGD:156173048 -  Homo sapiens

RGD ID: 156173048
ClinVar ID: CV2194313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: REC114  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 73,735,599
GRCh38 15 73,443,258
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001042367.2:c.73C>G
NM_001348772.2:c.73C>G
NC_000015.10:g.73443258C>G
NC_000015.9:g.73735599C>G
More... 		12/28/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:REC114
Accession:NM_001042367
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAGKVPLSLGLTGGEAAEWPLQGYARCIPSNTRDPPGPCLEAGTAPCPTWKVFDSNEESGYLVLTIVISGHFFIFQGQ
TLLEGFSLIGSKDWLKIVRRVDCLLFGTTIKDKSRLFRVQFSGESKEQALEHCCSCVQKLAQYITVQVPDGNIQELQLIP
GPPRATESQGKDSAKSVPRQPGSHQHSEQQQVCVTAGTGAPDGRTSLTQLAQTLLASEELPHVYEQSAWGAEELGPFLRL
CLMDQNFPAFVEEVEKELKKLAGLRN*

Gene Symbol:REC114
Accession:NM_001348772
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAGKVPLSLGLTGGEAAEWPLQGYARCIPSNTRDPPGPCLEAGTAPCPTWKVFDSNEESGYLVLTIVISGHFFIFQGQ
TLLDKSRLFRVQFSGESKEQALEHCCSCVQKLAQYITVQVPDGNIQELQLIPGPPRATESQGKDSAKSVPRQPGSHQHSE
QQQVCVTAGTGAPDGRTSLTQLAQTLLASEELPHVYEQSAWGAEELGPFLRLCLMDQNFPAFVEEVEKELKKLAGLRN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002664840 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene REC114 CLINVAR
OMIM 618421 CLINVAR