RGD:15126073 Rat Genome Database

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Variant: RGD:15126073 -  Homo sapiens

RGD ID: 15126073
RS ID: rs755145728
ClinVar ID: CV786225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 45,856,348
GRCh38 19 45,353,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.45856348G>T
NM_000400.4:c.1824C>A
NG_007067.2:g.22498C>A
NC_000019.10:g.45353090G>T
More...
12/14/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC2
Accession:NM_000400
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 608
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEI
EKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEE
FDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID
NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVP
GSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLL
ANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT
FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILEN
IQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYL
RDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF
LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL*

Gene Symbol:ERCC2
Accession:XM_011526611
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 582
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLG
LALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRR
QGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETL
QKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRV
QHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTP
TIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISS
KFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQE
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000980311 CLINVAR
dbSNP (RS) rs755145728 CLINVAR
MedGen C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene ERCC2 CLINVAR
OMIM 126340 CLINVAR