RGD:401742317 Rat Genome Database

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Variant: RGD:401742317 -  Homo sapiens

RGD ID: 401742317
ClinVar ID: CV2697749
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT15  LOC127886832  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,673,200
GRCh38 17 41,516,948
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002275.4:c.598G>A
NG_136528.1:g.408C>T
NG_012284.2:g.6942G>A
NG_012284.1:g.7071G>A
More...
04/25/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:KRT15
Accession:XM_017024614
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGG
FGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTI
EELRDKIMATTIDNSRVILEIDNARLAADDFRLKYENELTLRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYL
KKNHEEWVPPILQEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTE
MIQTSKTEITDLRRTMQELEIELQSQLSMKAGLENSLAETECRYATQLQQIQGLIGGLEAQLSELRCEMEAQNQEYKMLL
DIKTRLEQEIATYRSLLEGQDAKMAGIAIREAYSFSL*

Gene Symbol:KRT15
Accession:NM_002275
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGG
FGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTI
EELRDKIMATTIDNSRVILEIDNARLAADDFRLKYENELTLRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYL
KKNHEEEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTEMIQTSKT
EITDLRRTMQELEIELQSQLSMKAGLENSLAETECRYATQLQQIQGLIGGLEAQLSELRCEMEAQNQEYKMLLDIKTRLE
QEIATYRSLLEGQDAKMAGIAIREASSGGGGSSSNFHINVEESVDGQVVSSHKREI*

Gene Symbol:KRT15
Accession:XM_011524784
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 200
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGG
FGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTI
EELRDKIMATTIDNSRVILEIDNARLAADDFRLKYENELTLRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYL
KKNHEEWVPPILQEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTE
MIQTSKTEITDLRRTMQELEIELQSQLSMKAGLENSLAETECRYATQLQQIQGLIGGLEAQLSELRCEMEAQNQEYKMLL
DIKTRLEQEIATYRSLLEGQDAKMAGIAIREASSGGGGSSSNFHINVEESVDGQVVSSHKREI*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004300480 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene KRT15 CLINVAR
OMIM 148030 CLINVAR