RGD:8646119 Rat Genome Database

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Variant: RGD:8646119 -  Homo sapiens

RGD ID: 8646119
RS ID: rs2071247
ClinVar ID: CV105532
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRM6  ZNF454  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 178,410,151
GRCh38 5 178,983,150
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008105.1:g.16974G>A
NC_000005.10:g.178983150C>T
NC_000005.9:g.178410151C>T
NP_000834.2:p.Thr732=
More... 		08/10/2021 synonymous variant benign|not provided Night blindness, congenital stationary (complete), 1B, autosomal recessive; NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRM6
Accession:NM_000843
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 732
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQLKKEQGVHRLEAMLYALDRVN
ADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMV
ANVLRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNYGESGVEAFVQISREA
GGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGHFLWVGSDSWGAKTSPILSLE
DVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEFWEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGK
VQFVIDAVYAIAHALHSMHQALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATNG
SASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPG
DMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVATTTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFL
MVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARP
PHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAIKARGVPETFNEAKPIGFTMYTTCIIWLAFV
PIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKTYVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK*

Gene Symbol:ZNF454
Accession:NM_001323309
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178090
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_182594
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178089
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323306
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323310
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323307
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323308
Location:INTRON

Gene Symbol:ZNF454
Accession:XR_007058600
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000086046 CLINVAR
  RCV001701748 CLINVAR
dbSNP (RS) rs2071247 CLINVAR
MedGen C1850362 CLINVAR
  C3661900 CLINVAR
NCBI Gene GRM6 CLINVAR
  ZNF454 CLINVAR
OMIM 257270 CLINVAR
  604096 CLINVAR