RGD:126729374 Rat Genome Database

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Variant: RGD:126729374 -  Homo sapiens

RGD ID: 126729374
ClinVar ID: CV1022110
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 41,320,372
GRCh38 22 40,924,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000022.10:g.41320372C>T
NM_022098.3:c.1243C>T
NP_071381.1:p.Arg415Ter
NM_022098.4:c.1243C>T
More... 		02/12/2018 nonsense pathogenic

Gene Symbol:XPNPEP3
Accession:NM_022098
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 415
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRPGEVTPGLSQVEYALRRHKLM
SLIQKEAQGQSGTDQTVVVLSNPTYYMSNDIPYTFHQDNNFLYLCGFQEPDSILVLQSLPGKQLPSHKAILFVPRRDPSR
ELWDGPRSGTDGAIALTGVDEAYTLEEFQHLLPKMKAETNMVWYDWMRPSHAQLHSDYMQPLTEAKAKSKNKVRGVQQLI
QRLRLIKSPAEIERMQIAGKLTSQAFIETMFTSKAPVEEAFLYAKFEFECRARGADILAYPPVVAGGNRSNTLHYVKNNQ
LIKDGEMVLLDGGCESSCYVSDITRTWPVNGRFTAPQAELYEAVLEIQRDCLALCFPGTSLENIYSMMLTLIGQKLKDLG
IMKNIKENNAFKAA*KYCPHHVGHYLGMDVHDTPDMPRSLPLQPGMVITIEPGIYIPEDDKDAPEKFRGLGVRIEDDVVV
TQDSPLILSADCPKEMNDIEQICSQAS*

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

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