RGD:14695858 Rat Genome Database

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Variant: RGD:14695858 -  Homo sapiens

RGD ID: 14695858
RS ID: rs769146546
ClinVar ID: CV622465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 45,858,017
GRCh38 19 45,354,759
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_461t1:c.1636G>A
NG_007067.2:g.20829G>A
NC_000019.9:g.45858017C>T
NP_000391.1:p.Glu546Lys
More... 		01/01/2019 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ERCC2
Accession:NM_000400
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 546
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEI
EKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEE
FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVP
GSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLL
ANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMKSTVASWYEQGILEN
IQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYL
RDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL*

Gene Symbol:ERCC2
Accession:XM_011526611
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 520
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLG
LALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRR
QGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETL
QKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRV
QHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTP
TIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISS
KFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMKSTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQE
ACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGR
AIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLES
EETLKRIEQIAQQL*

Gene Symbol:ERCC2
Accession:XR_001753633
Location:EXON;NON-CODING

Gene Symbol:ERCC2
Accession:XR_007066680
Location:EXON;NON-CODING

Gene Symbol:ERCC2
Accession:NM_001130867
Location:INTRON

Gene Symbol:ERCC2
Accession:XM_047438393
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000785056 CLINVAR
dbSNP (RS) rs769146546 CLINVAR
MedGen C1955934 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR