RGD:156270477 Rat Genome Database

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Pathways
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Variant: RGD:156270477 -  Homo sapiens

RGD ID: 156270477
ClinVar ID: CV2236979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MKRN2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 12,611,668
GRCh38 3 12,570,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001271707.2:c.125C>G
NM_014160.5:c.254C>G
NC_000003.12:g.12570169C>G
NC_000003.11:g.12611668C>G
More... 		05/04/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MKRN2
Accession:NM_014160
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 85
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTKQITCRYFMHGVCREGSQCLFSHDLANSKPSTICKYYQKGYCAYGTRCRYDHTRPSAAAGGAVGTMAHSVPSPAFHS
PHPPCEVTASIVKTNSHEPGKREKRTLVLRDRNLSGMAERKTQPSMVSNPGSCSDPQPSPEMKPHSYLDAIRSGLDDVEA
SSSYSNEQQLCPYAAAGECRFGDACVYLHGEVCEICRLQVLHPFDPEQRKAHEKICMLTFEHEMEKAFAFQASQDKVCSI
CMEVILEKASASERRFGILSNCNHTYCLSCIRQWRCAKQFENPIIKSCPECRVISEFVIPSVYWVEDQNKKNELIEAFKQ
GMGKKACKYFEQGKGTCPFGSKCLYRHAYPDGRLAEPEKPRKQLSSQGTVRFFNSVRLWDFIENRESRHVPNNEDVDMTE
LGDLFMHLSGVESSEP*

Gene Symbol:MKRN2
Accession:NM_001271707
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 42
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTKQITCRYDHTRPSAAAGGAVGTMAHSVPSPAFHSPHPPCEVTASIVKTNSHEPGKREKRTLVLRDRNLSGMAERKTQ
PSMVSNPGSCSDPQPSPEMKPHSYLDAIRSGLDDVEASSSYSNEQQLCPYAAAGECRFGDACVYLHGEVCEICRLQVLHP
FDPEQRKAHEKICMLTFEHEMEKAFAFQASQDKVCSICMEVILEKASASERRFGILSNCNHTYCLSCIRQWRCAKQFENP
IIKSCPECRVISEFVIPSVYWVEDQNKKNELIEAFKQGMGKKACKYFEQGKGTCPFGSKCLYRHAYPDGRLAEPEKPRKQ
LSSQGTVRFFNSVRLWDFIENRESRHVPNNEDVDMTELGDLFMHLSGVESSEP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002792439 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene MKRN2 CLINVAR
OMIM 608426 CLINVAR