RGD:15166270 Rat Genome Database

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Variant: RGD:15166270 -  Homo sapiens

RGD ID: 15166270
RS ID: rs914696118
ClinVar ID: CV749731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCM2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 10,874,807
GRCh38 6 10,874,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004752.4:c.942C>G
NC_000006.12:g.10874574G>C
NC_000006.11:g.10874807G>C
NM_004752.3:c.942C>G
More... 		06/11/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GCM2
Accession:NM_004752
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKS
CLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHP
RPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSY
ERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMK
YSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000926828 CLINVAR
dbSNP (RS) rs914696118 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GCM2 CLINVAR
OMIM 603716 CLINVAR