RGD:15147262 Rat Genome Database

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Variant: RGD:15147262 -  Homo sapiens

RGD ID: 15147262
RS ID: rs2307173
ClinVar ID: CV741961
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: XRCC1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 44,056,273
GRCh38 19 43,552,121
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006297.3:c.978G>T
NG_033799.1:g.28458G>T
NC_000019.10:g.43552121C>A
NC_000019.9:g.44056273C>A
More... 		02/14/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:XRCC1
Accession:NM_006297
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 326
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEIRLRHVVSCSSQDSTHCAENLLKADTYRKWRAAKAGEKTISVVLQLEKEEQIHSVDIGNDGSAFVEVLVGSSAGGAG
EQDYEVLLVTSSFMSPSESRSGSNPNRVRMFGPDKLVRAAAEKRWDRVKIVCSQPYSKDSPFGLSFVRFHSPPDKDEAEA
PSQKVTVTKLGQFRVKEEDESANSLRPGALFFSRINKTSPVTASDPAGPSYAAATLQASSAASSASPVSRAIGSTSKPQE
SPKGKRKLDLNQEEKKTPSKPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPRGEGTEPRRPRAGPEELGKIL
QGVVVVLSGFQNPFRSELRDKALELGAKYRPDWTRDSTHLICAFANTPKYSQVLGLGGRIVRKEWVLDCHRMRRRLPSQR
YLMAGPGSSSEEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSPQKPPTPEETKAASPVLQEDIDIEGVQSEGQDN
GAEDSGDTEDELRRVAEQKEHRLPPGQEENGEDPYAGSTDENTDSEEHQEPPDLPVPELPDFFQGKHFFLYGEFPGDERR
KLIRYVTAFNGELEDYMSDRVQFVITAQEWDPSFEEALMDNPSLAFVRPRWIYSCNEKQKLLPHQLYGVVPQA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000900482 CLINVAR
dbSNP (RS) rs2307173 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene XRCC1 CLINVAR
OMIM 194360 CLINVAR