RGD:156236776 Rat Genome Database

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Variant: RGD:156236776 -  Homo sapiens

RGD ID: 156236776
ClinVar ID: CV1952827
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MNX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 156,802,829
GRCh38 7 157,010,135
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_005506.3:p.Arg72=
NM_005515.4:c.216C>T
NG_013212.1:g.5519C>T
NC_000007.14:g.157010135G>A
More... 		08/08/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MNX1
Accession:NM_005515
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSP
PRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYG
HPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTETQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGA
GKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAP
Q*

Gene Symbol:MNX1
Accession:NM_001165255
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002576084 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MNX1 CLINVAR
OMIM 142994 CLINVAR