RGD:155958611 Rat Genome Database

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Variant: RGD:155958611 -  Homo sapiens

RGD ID: 155958611
ClinVar ID: CV1936401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MKRN2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 12,623,722
GRCh38 3 12,582,223
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.1092C>T
NM_014160.5:c.1221C>T
LRG_413:g.86957G>A
NG_007467.1:g.86957G>A
More... 		12/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MKRN2
Accession:NM_001271707
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTKQITCRYDHTRPSAAAGGAVGTMAHSVPSPAFHSPHPPSEVTASIVKTNSHEPGKREKRTLVLRDRNLSGMAERKTQ
PSMVSNPGSCSDPQPSPEMKPHSYLDAIRSGLDDVEASSSYSNEQQLCPYAAAGECRFGDACVYLHGEVCEICRLQVLHP
FDPEQRKAHEKICMLTFEHEMEKAFAFQASQDKVCSICMEVILEKASASERRFGILSNCNHTYCLSCIRQWRCAKQFENP
IIKSCPECRVISEFVIPSVYWVEDQNKKNELIEAFKQGMGKKACKYFEQGKGTCPFGSKCLYRHAYPDGRLAEPEKPRKQ
LSSQGTVRFFNSVRLWDFIENRESRHVPNNEDVDMTELGDLFMHLSGVESSEP*

Gene Symbol:MKRN2
Accession:NM_014160
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 407
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTKQITCRYFMHGVCREGSQCLFSHDLANSKPSTICKYYQKGYCAYGTRCRYDHTRPSAAAGGAVGTMAHSVPSPAFHS
PHPPSEVTASIVKTNSHEPGKREKRTLVLRDRNLSGMAERKTQPSMVSNPGSCSDPQPSPEMKPHSYLDAIRSGLDDVEA
SSSYSNEQQLCPYAAAGECRFGDACVYLHGEVCEICRLQVLHPFDPEQRKAHEKICMLTFEHEMEKAFAFQASQDKVCSI
CMEVILEKASASERRFGILSNCNHTYCLSCIRQWRCAKQFENPIIKSCPECRVISEFVIPSVYWVEDQNKKNELIEAFKQ
GMGKKACKYFEQGKGTCPFGSKCLYRHAYPDGRLAEPEKPRKQLSSQGTVRFFNSVRLWDFIENRESRHVPNNEDVDMTE
LGDLFMHLSGVESSEP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002512216 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MKRN2 CLINVAR
  RAF1 CLINVAR
OMIM 164760 CLINVAR
  608426 CLINVAR