RGD:15141676 Rat Genome Database

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Variant: RGD:15141676 -  Homo sapiens

RGD ID: 15141676
RS ID: rs760862492
ClinVar ID: CV741983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 45,916,887
GRCh38 19 45,413,629
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_015839.2:g.70200C>A
NP_001356339.1:p.Ala273=
NP_001356340.1:p.Ala273=
NP_001356337.1:p.Ala297=
More... 		11/14/2017 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC1
Accession:NM_001369409
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGS
EPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSL
GKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLT
TVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSG
FRL*

Gene Symbol:ERCC1
Accession:NM_202001
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGS
EPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSL
GKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLT
TVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSG
FRL*

Gene Symbol:ERCC1
Accession:NM_001369408
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 297
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGS
EPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSL
GKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLT
TVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSG
FRL*

Gene Symbol:ERCC1
Accession:NM_001369411
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGS
EPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSL
GKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRSLEQLI
AASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSGFRL*

Gene Symbol:ERCC1
Accession:NM_001369410
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTYAEYAISQPLEGAGATCPTGS
EPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVPWEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSL
GKNFALRVLLVQVDVKDPQQALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRSLEQLI
AASREDLALCPGLGPQKVRALGKNPRSWGKERAPNKHNLRPQSFKVKKEPKTRHSGFRL*

Gene Symbol:ERCC1
Accession:NM_001369412
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369415
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369414
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369416
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001983
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369419
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369417
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369413
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001369418
Location:INTRON

Gene Symbol:ERCC1
Accession:NM_001166049
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899538 CLINVAR
dbSNP (RS) rs760862492 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ERCC1 CLINVAR
OMIM 126380 CLINVAR