RGD:15105064 Rat Genome Database

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Variant: RGD:15105064 -  Homo sapiens

RGD ID: 15105064
RS ID: rs200407312
ClinVar ID: CV688185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZIC2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 100,634,864
GRCh38 13 99,982,610
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007129.5:c.546G>T
NG_007085.3:g.5855G>T
NC_000013.11:g.99982610G>T
NC_000013.10:g.100634864G>T
More... 		11/27/2020 synonymous variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZIC2
Accession:NM_007129
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLDAGPQFPAIGVGSFARHHHHSAAAAAAAAAEMQDRELSLAAAQNGFVDSAAAHMGAFKLNPGAHELSPGQSSAFTSQ
GPGAYPGSAAAAAAAAALGPHAAHVGSYSGPPFNSTRDFLFRSRGFGDSAPGGGQHGLFGPGAGGLHHAHSDAQGHLLFP
GLPEQHGPHGSQNVLNGQMRLGLPGEVFGRSEQYRQVASPRTDPYSAAQLHNQYGPMNMNMGMNMAAAAAHHHHHHHHHP
GAFFRYMRQQCIKQELICKWIDPEQLSNPKKSCNKTFSTMHELVTHVSVEHVGGPEQSNHVCFWEECPREGKPFKAKYKL
VNHIRVHTGEKPFPCPFPGCGKVFARSENLKIHKRTHTGEKPFQCEFEGCDRRFANSSDRKKHMHVHTSDKPYLCKMCDK
SYTHPSSLRKHMKVHESSPQGSESSPAASSGYESSTPPGLVSPSAEPQSSSNLSPAAAAAAAAAAAAAAAVSAVHRGGGS
GSGGAGGGSGGGSGSGGGGGGAGGGGGGSSGGGSGTAGGHSGLSSNFNEWYV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000871014 CLINVAR
  RCV001638007 CLINVAR
dbSNP (RS) rs200407312 CLINVAR
MedGen C1864827 CLINVAR
  C3661900 CLINVAR
NCBI Gene ZIC2 CLINVAR
OMIM 603073 CLINVAR
  609637 CLINVAR