RGD:15183649 Rat Genome Database

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Variant: RGD:15183649 -  Homo sapiens

RGD ID: 15183649
RS ID: rs938361223
ClinVar ID: CV729400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XPNPEP2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 128,887,206
GRCh38 X 129,753,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003399.6:c.1089C>G
NG_011479.1:g.19261C>G
NC_000023.11:g.129753230C>G
NC_000023.10:g.128887206C>G
More... 		09/20/2017 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XPNPEP2
Accession:NM_003399
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARAHWGCCPWLVLLCACAWGHTKPVDLGGQDVRNCSTNPPYLPVTVVNTTMSLTALRQQMQTQNLSAYIIPGTDAHMNE
YIGQHDERRAWITGFTGSAGTAVVTMKKAAVWTDSRYWTQAERQMDCNWELHKEVGTTPIVTWLLTEIPAGGRVGFDPFL
LSIDTWESYDLALQGSNRQLVSITTNLVDLVWGSERPPVPNQPIYALQEAFTGSTWQEKVSGVRSQMQKHQKVPTAVLLS
ALEETAWLFNLRASDIPYNPFFYSYTLLTDSSIRLFANKSRFSSETLSYLNSSCTGPMCVQIEDYSQVRDSIQAYSLGDV
RIWIGTSYTMYGIYEMIPKEKLVTDTYSPVMMTKAVKNSKEQALLKASHVRDAVAVIRYLVWLEKNVPKGTVDEFSGAEI
VDKFRGEEQFSSGPSFETISASGLNAALAHYSPTKELNRKLSSDEMYLLDSGGQYWDGTTDITRTVHWGTPSAFQKEAYT
RVLIGNIDLSRLIFPAATSGRMVEAFARRALWDAGLNYGHGTGHGIGNFLCVHEWPVGFQSNNIAMAKGMFTSIEPGYYK
DGEFGIRLEDVALVVEAKTKYPGSYLTFEVVSFVPYDRNLIDVSLLSPEHLQYLNRYYQTIREKVGPELQRRQLLEEFEW
LQQHTEPLAARAPDTASWASVLVVSTLAILGWSV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000886272 CLINVAR
dbSNP (RS) rs938361223 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene XPNPEP2 CLINVAR
OMIM 300145 CLINVAR