RGD:155701517 Rat Genome Database

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Variant: RGD:155701517 -  Homo sapiens

RGD ID: 155701517
ClinVar ID: CV1791298
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ8  LOC105369689  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 21,918,758
GRCh38 12 21,765,824
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004982.2:c.1174A>G
NP_004973.1:p.Met392Val
NM_004982.4:c.1174A>G
NG_041794.1:g.13998A>G
More... 		05/27/2022 missense variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:KCNJ8
Accession:NM_004982
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDIFTTLVDLKWRHTLVIFTMSF
LCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVCVTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLI
LQNIVGLIINAVMLGCIFMKTAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKSMIISASVRIQVVKKTTTPEGEV
VPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVVETTGITTQARTSYIAEEIQW
GHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDEKPSILIQTLQKSELSHQNSLRKRNSMRRNNSVRRNNSIRR
NNSSLMVPKVQFMTPEGNQNTSES*

Gene Symbol:LOC105369689
Accession:XR_007063241
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002333684 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene KCNJ8 CLINVAR
OMIM 600935 CLINVAR