RGD:8621526 Rat Genome Database

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Variant: RGD:8621526 -  Homo sapiens

RGD ID: 8621526
RS ID: rs387907434
ClinVar ID: CV75500
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 10,874,581
GRCh38 6 10,874,348
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008970.1:g.12518T>C
NC_000006.12:g.10874348A>G
NC_000006.11:g.10874581A>G
NP_004743.1:p.Ser390Pro
More... 		missense|missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCM2
Accession:NM_004752
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 390
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKS
CLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHP
RPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFDIVTETSFPIPGQPCPSFPKSDV
YKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSY
ERSFDFTNKQHGWKPALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVPYQAYQPPAMK
YSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDV
CLSGLGSAVSYSDRVGPFFTYNNEDF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000054722 CLINVAR
dbSNP (RS) rs387907434 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GCM2 CLINVAR
OMIM 603716 CLINVAR