RGD:11350677 Rat Genome Database

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Variant: RGD:11350677 -  Homo sapiens

RGD ID: 11350677
RS ID: rs878853037
ClinVar ID: CV237132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ERCC4  LOC105371093  LOC130058543  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 14,014,111
GRCh38 16 13,920,254
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_463:g.5098A>C
NG_011442.1:g.5098A>C
NC_000016.10:g.13920254A>C
NC_000016.9:g.14014111A>C
More... 		04/28/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ERCC4
Accession:XM_011522424
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGQPARRIAMAPLLEYERQLVLELLDTAGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEG
VEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITEILPLTCQKHPTPGPVPSLSPQPGSLELSWP
RWSQGSIQPLFRYHLGILVYRAHRIIESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWP
RFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLW
HQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAKMSKK
EKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQLRDYITLGAEAFLLR
LYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGY
RREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGCSDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIY
RASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGG
QEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKR
PVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDAATALAITAD
SETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVSKGKG
KK*

Gene Symbol:ERCC4
Accession:NM_005236
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESGQPARRIAMAPLLEYERQLVLELLDTAGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEEYFINQLKIEG
VEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRIIESCQEAFILRLFRQKNKRGF
IKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPEVVEIHVSMTPTMLAIQTAILDILNACLKEL
KCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAKTKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAF
GQNSGWLFLDSSTSMFINARARVYHLPDAKMSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEA
LGGPGQVLICASDDRTCSQLRDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERAST
KERTLKKKKRKLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGC
SDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAFEKLIREKASM
VVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIHRRGIDIEPVTLEVGDYILTP
EMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLTSRGALFQEISSNDISSKLTLLTLHFPRLRI
LWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPESEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALS
QDELTSILGNAANAKQLYDFIHTSFAEVVSKGKGKK*

Gene Symbol:ERCC4
Accession:XM_047433774
Location:INTRON

Gene Symbol:ERCC4
Accession:XM_011522427
Location:INTRON

Gene Symbol:LOC105371093
Accession:XR_007064998
Location:INTRON;NON-CODING

Gene Symbol:LOC105371093
Accession:XR_007065000
Location:INTRON;NON-CODING

Gene Symbol:LOC105371093
Accession:XR_007064999
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000224195 CLINVAR
dbSNP (RS) rs878853037 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ERCC4 CLINVAR
  LOC130058543 CLINVAR
OMIM 133520 CLINVAR