RGD:15203139 Rat Genome Database

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Variant: RGD:15203139 -  Homo sapiens

RGD ID: 15203139
RS ID: rs1601522092
ClinVar ID: CV758105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 41,318,499
GRCh38 22 40,922,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022098.4:c.1218G>A
NG_028221.1:g.70415G>A
NC_000022.11:g.40922495G>A
NC_000022.10:g.41318499G>A
More... 		05/04/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XPNPEP3
Accession:NM_022098
Location:EXON
Amino Acid Prediction: K to K (synonymous)
Amino Acid Position: 406
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPWLLSAPKLVPAVANVRGLSGCMLCSQRRYSLQPVPERRIPNRYLGQPSPFTHPHLLRPGEVTPGLSQVEYALRRHKLM
SLIQKEAQGQSGTDQTVVVLSNPTYYMSNDIPYTFHQDNNFLYLCGFQEPDSILVLQSLPGKQLPSHKAILFVPRRDPSR
ELWDGPRSGTDGAIALTGVDEAYTLEEFQHLLPKMKAETNMVWYDWMRPSHAQLHSDYMQPLTEAKAKSKNKVRGVQQLI
QRLRLIKSPAEIERMQIAGKLTSQAFIETMFTSKAPVEEAFLYAKFEFECRARGADILAYPPVVAGGNRSNTLHYVKNNQ
LIKDGEMVLLDGGCESSCYVSDITRTWPVNGRFTAPQAELYEAVLEIQRDCLALCFPGTSLENIYSMMLTLIGQKLKDLG
IMKNIKENNAFKAARKYCPHHVGHYLGMDVHDTPDMPRSLPLQPGMVITIEPGIYIPEDDKDAPEKFRGLGVRIEDDVVV
TQDSPLILSADCPKEMNDIEQICSQAS*

Gene Symbol:XPNPEP3
Accession:NM_001204827
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000913744 CLINVAR
dbSNP (RS) rs1601522092 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene XPNPEP3 CLINVAR
OMIM 613553 CLINVAR