RGD:405783889 Rat Genome Database

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Variant: RGD:405783889 -  Homo sapiens

RGD ID: 405783889
ClinVar ID: CV3267694
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INKA2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 112,269,828
GRCh38 1 111,727,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198926.2:c.611G>A
NM_019099.5:c.656G>A
NC_000001.11:g.111727206C>T
NC_000001.10:g.112269828C>T
More... 		05/16/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:INKA2
Accession:NM_198926
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQLMSMKEVGDGLQDQMNCMMGALQELKLLQVQTALEQLEISGGGPVPGSPEGPRTQCEHPCWEGGRGPARPTVCSPSS
QPSLGSSTKFPSHRSVCGRDLAPLPRTQPHQSCAQQGPERVEPDDWTSTLMSRGRNRQPLVLGDNVFADLVGNWLDLPEL
EKGGEKGETGGAREPKGEKGQPQELGRRFALTANIFKKFLRSVQPDRDRLLKEKPGWVTPMVPESRTGRSQKVKKRSLSK
GSGHFPFPGTGEHRRGENPPTSCPKALEHSPSGFDINTAVWV*

Gene Symbol:INKA2
Accession:NM_019099
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 219
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTMESREMDCYLRRLKQELMSMKEVGDGLQDQMNCMMGALQELKLLQVQTALEQLEISGGGPVPGSPEGPRTQCEHPCWE
GGRGPARPTVCSPSSQPSLGSSTKFPSHRSVCGRDLAPLPRTQPHQSCAQQGPERVEPDDWTSTLMSRGRNRQPLVLGDN
VFADLVGNWLDLPELEKGGEKGETGGAREPKGEKGQPQELGRRFALTANIFKKFLRSVQPDRDRLLKEKPGWVTPMVPES
RTGRSQKVKKRSLSKGSGHFPFPGTGEHRRGENPPTSCPKALEHSPSGFDINTAVWV*

Gene Symbol:INKA2
Accession:XM_011541783
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSMKEVGDGLQDQMNCMMGALQELKLLQVQTALEQLEISGGGPVPGSPEGPRTQCEHPCWEGGRGPARPTVCSPSSQPSL
GSSTKFPSHRSVCGRDLAPLPRTQPHQSCAQQGPERVEPDDWTSTLMSRGRNRQPLVLGDNVFADLVGNWLDLPELEKGG
EKGETGGAREPKGEKGQPQELGRRFALTANIFKKFLRSVQPDRDRLLKEKPGWVTPMVPESRTGRSQKVKKRSLSKGSGH
FPFPGTGEHRRGENPPTSCPKALEHSPSGFDINTAVWV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004398068 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene INKA2 CLINVAR
OMIM 620403 CLINVAR