rs121912549 Rat Genome Database

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Variant: rs121912549 -  Homo sapiens

RGD ID: 8599990
RS ID: rs121912549
ClinVar ID: CV29898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MNX1  MNX1-AS2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 156,799,181
GRCh38 7 157,006,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_013212.1:g.9167G>T
NC_000007.14:g.157006487C>A
NC_000007.13:g.156799181C>A
NP_005506.3:p.Glu282Ter
More... 		11/28/2012 nonsense|stop-gain pathogenic all ages|variable 1-9 / 100 000 Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MNX1
Accession:NM_005515
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEKSKNFRIDALLAVDPPRAASAQSAPLALVTSLAAAASGTGGGGGGGGASGGTSGSCSPASSEPPAAPADRLRAESPSP
PRLLAAHCALLPKPGFLGAGGGGGGTGGGHGGPHHHAHPGAAAAAAAAAAAAAAGGLALGLHPGGAQGGAGLPAQAALYG
HPVYGYSAAAAAAALAGQHPALSYSYPQVQGAHPAHPADPIKLGAGTFQLDQWLRASTAGMILPKMPDFNSQAQSNLLGK
CRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTKTQVKIWFQNRRMKWKRSKKAKEQAAQEAEKQKGGGGGA
GKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSNGASVHAASSDCSSEDDSPPPRPSHQPAP
Q*

Gene Symbol:MNX1
Accession:NM_001165255
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGLSTVGACPGILGAQQAQAQSNLLGKCRRPRTAFTSQQLLELEHQFKLNKYLSRPKRFEVATSLMLTKTQVKIWFQNR
RMKWKRSKKAKEQAAQEAEKQKGGGGGAGKGGAEEPGAEELLGPPAPGDKGSGRRLRDLRDSDPEEDEDEDDEDHFPYSN
GASVHAASSDCSSEDDSPPPRPSHQPAPQ*

Gene Symbol:MNX1-AS2
Accession:NR_147077
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:16906559  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015984 CLINVAR
dbSNP (RS) rs121912549 CLINVAR
MedGen C1531773 CLINVAR
NCBI Gene MNX1 CLINVAR
  MNX1-AS2 CLINVAR
OMIM 142994 CLINVAR
  176450 CLINVAR
OMIM Allele 142994.0010 CLINVAR
SNOMED CT 413936007 CLINVAR