RGD:8646115 Rat Genome Database

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Variant: RGD:8646115 -  Homo sapiens

RGD ID: 8646115
RS ID: rs62638621
ClinVar ID: CV105528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRM6  ZNF454  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 178,413,299
GRCh38 5 178,986,298
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.13826C>T
NC_000005.10:g.178986298G>A
NC_000005.9:g.178413299G>A
NP_000834.2:p.Ala652=
More... 		05/04/2021 synonymous variant benign|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:GRM6
Accession:NM_000843
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 652
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARPRRAREPLLVALLPLAWLAQAGLARAAGSVRLAGGLTLGGLFPVHARGAAGRACGQLKKEQGVHRLEAMLYALDRVN
ADPELLPGVRLGARLLDTCSRDTYALEQALSFVQALIRGRGDGDEVGVRCPGGVPPLRPAPPERVVAVVGASASSVSIMV
ANVLRLFAIPQISYASTAPELSDSTRYDFFSRVVPPDSYQAQAMVDIVRALGWNYVSTLASEGNYGESGVEAFVQISREA
GGVCIAQSIKIPREPKPGEFSKVIRRLMETPNARGIIIFANEDDIRRVLEAARQANLTGHFLWVGSDSWGAKTSPILSLE
DVAVGAITILPKRASIDGFDQYFMTRSLENNRRNIWFAEFWEENFNCKLTSSGTQSDDSTRKCTGEERIGRDSTYEQEGK
VQFVIDAVYAIAHALHSMHQALCPGHTGLCPAMEPTDGRMLLQYIRAVRFNGSAGTPVMFNENGDAPGRYDIFQYQATNG
SASSGGYQAVGQWAETLRLDVEALQWSGDPHEVPSSLCSLPCGPGERKKMVKGVPCCWHCEACDGYRFQVDEFTCEACPG
DMRPTPNHTGCRPTPVVRLSWSSPWAAPPLLLAVLGIVATTTVVATFVRYNNTPIVRASGRELSYVLLTGIFLIYAITFL
MVAEPGAAVCAARRLFLGLGTTLSYSALLTKTNRIYRIFEQGKRSVTPPPFISPTSQLVITFSLTSLQVVGMIAWLGARP
PHSVIDYEEQRTVDPEQARGVLKCDMSDLSLIGCLGYSLLLMVTCTVYAIKARGVPETFNEAKPIGFTMYTTCIIWLAFV
PIFFGTAQSAEKIYIQTTTLTVSLSLSASVSLGMLYVPKTYVILFHPEQNVQKRKRSLKATSTVAAPPKGEDAEAHK*

Gene Symbol:ZNF454
Accession:NM_001323307
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323309
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_182594
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178090
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323310
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001178089
Location:INTRON

Gene Symbol:ZNF454
Accession:NM_001323306
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000086041 CLINVAR
  RCV000360234 CLINVAR
dbSNP (RS) rs62638621 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene GRM6 CLINVAR
  ZNF454 CLINVAR
OMIM 604096 CLINVAR