RGD:156201454 Rat Genome Database

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Variant: RGD:156201454 -  Homo sapiens

RGD ID: 156201454
ClinVar ID: CV2092512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FARSB  LOC105373902  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 223,513,504
GRCh38 2 222,648,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005687.5:c.69A>G
NC_000002.12:g.222648785T>C
NC_000002.11:g.223513504T>C
NR_130154.2:n.88A>G
More... 		04/16/2022 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FARSB
Accession:XM_011510466
Location:5UTRS;EXON

Gene Symbol:FARSB
Accession:XM_006712169
Location:5UTRS;EXON

Gene Symbol:FARSB
Accession:NM_005687
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPTVSVKRDLLFQALGRTYTDEEFDELCFEFGLELDEITSEKEIISKEQGNVKAAGASDVVLYKIDVPANRYDLLCLEGL
VRGLQVFKERIKAPVYKRVMPDGKIQKLIITEETAKIRPFAVAAVLRNIKFTKDRYDSFIELQEKLHQNICRKRALVAIG
THDLDTLSGPFTYTAKRPSDIKFKPLNKTKEYTACELMNIYKTDNHLKHYLHIIENKPLYPVIYDSNGVVLSMPPIINGD
HSRITVNTRNIFIECTGTDFTKAKIVLDIIVTMFSEYCENQFTVEAAEVVFPNGKSHTFPELAYRKEMVRADLINKKVGI
RETPENLAKLLTRMYLKSEVIGDGNQIEIEIPPTRADIIHACDIVEDAAIAYGYNNIQMTLPKTYTIANQFPLNKLTELL
RHDMAAAGFTEALTFALCSQEDIADKLGVDISATKAVHISNPKTAEFQVARTTLLPGLLKTIAANRKMPLPLKLFEISDI
VIKDSNTDVGAKNYRHLCAVYYNKNPGFEIIHGLLDRIMQLLDVPPGEDKGGYVIKASEGPAFFPGRCAEIFARGQSVGK
LGVLHPDVITKFELTMPCSSLEINVGPFL*

Gene Symbol:FARSB
Accession:NR_130154
Location:EXON;NON-CODING

Gene Symbol:LOC105373902
Accession:XR_923947
Location:INTRON;NON-CODING

Gene Symbol:LOC105373902
Accession:XR_007088094
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002917802 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FARSB CLINVAR
OMIM 609690 CLINVAR