RGD:156196837 Rat Genome Database

RGD:156196837 Rat Genome Database

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Variant: RGD:156196837 - Homo sapiens

RGD ID:

156196837

ClinVar ID:

CV2293502

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	11	45,923,991
GRCh38	11	45,902,440

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005456.4:c.673C>T NG_012153.1:g.21790C>T NC_000011.10:g.45902440C>T NC_000011.9:g.45923991C>T More...	08/08/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	MAPK8IP1
Accession:	NM_005456
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAERESGGLGGGAASPPAASPFLGLHIASPPNFRLTHDISLEEFEDEDLSEITDECGISLQCKDTLSLRPPRAGLLSAGG GGAGSRLQAEMLQMDLIDATGDTPGAEDDEEDDDEERAARRPGAGPPKAESGQEPASRGQGQSQGQSQGPGSGDTYRPKR PTTLNLFPQVPRSQDTLNNNSLGKKHSWQDRVSRSSSPLKTGEQTPPHEHICLSDELPPQSGPASTTDRGTSTDSPCRRS TATQMAPPGGPPAAPPGGRGHSHRDRIHYQADVRLEATEEIYLTPVQRPPDAAEPTSAFLPPTESRMSVSSDPDPAAYPS TAGRPHPSISEEEEGFDCLSSPERAEPPGGGWRGSLGEPPPPPRASLSSDTSALSYDSVKYTLVVDEHAQLELVSLRPCF GDYSDESDSATVYDNCASVSSPYESAIGEEYEEAPRPQPPACLSEDSTPDEPDVHFSKKFLNVFMSGRSRSSSAESFGLF SCIINGEEQEQTHRAIFRFVPRHEDELELEVDDPLLVELQAEDYWYEAYNMRTGARGVFPAYYAIEVTKEPEHMAALAKN SDWVDQFRVKFLGSVQVPYHKGNDVLCAAMQKIATTRRLTVHFNPPSSCVLEISVRGVKIGVKADDSQEAKGNKCSHFFQ LKNISFCGYHPKNNKYFGFITKHPADHRFACHVFVSEDSTKALAESVGRAFQQFYKQFVEYTCPTEDIYLE*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004153039	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	MAPK8IP1	CLINVAR
OMIM	604641	CLINVAR