RGD:8636154 Rat Genome Database

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Variant: RGD:8636154 -  Homo sapiens

RGD ID: 8636154
ClinVar ID: CV91378
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT15  LOC127886832  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,673,348
GRCh38 17 41,517,096
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002275.3:c.568G>A
NG_012284.1:g.6923G>A
NC_000017.11:g.41517096C>T
NC_000017.10:g.39673348C>T
More...
missense|missense variant|500b downstream variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:KRT15
Accession:NM_002275
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGG
FGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTI
EELRDKIMATTIDNSRVILEIDNARLAADNFRLKYENELALRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYL
KKNHEEEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTEMIQTSKT
EITDLRRTMQELEIELQSQLSMKAGLENSLAETECRYATQLQQIQGLIGGLEAQLSELRCEMEAQNQEYKMLLDIKTRLE
QEIATYRSLLEGQDAKMAGIAIREASSGGGGSSSNFHINVEESVDGQVVSSHKREI*

Gene Symbol:KRT15
Accession:XM_011524784
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGG
FGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTI
EELRDKIMATTIDNSRVILEIDNARLAADNFRLKYENELALRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYL
KKNHEEWVPPILQEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTE
MIQTSKTEITDLRRTMQELEIELQSQLSMKAGLENSLAETECRYATQLQQIQGLIGGLEAQLSELRCEMEAQNQEYKMLL
DIKTRLEQEIATYRSLLEGQDAKMAGIAIREASSGGGGSSSNFHINVEESVDGQVVSSHKREI*

Gene Symbol:KRT15
Accession:XM_017024614
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 190
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTTFLQTSSSTFGGGSTRGGSLLAGGGGFGGGSLSGGGGSRSISASSARFVSSGSGGGYGGGMRVCGFGGGAGSVFGGG
FGGGVGGGFGGGFGGGDGGLLSGNEKITMQNLNDRLASYLDKVRALEEANADLEVKIHDWYQKQTPTSPECDYSQYFKTI
EELRDKIMATTIDNSRVILEIDNARLAADNFRLKYENELALRQGVEADINGLRRVLDELTLARTDLEMQIEGLNEELAYL
KKNHEEWVPPILQEMKEFSSQLAGQVNVEMDAAPGVDLTRVLAEMREQYEAMAEKNRRDVEAWFFSKTEELNKEVASNTE
MIQTSKTEITDLRRTMQELEIELQSQLSMKAGLENSLAETECRYATQLQQIQGLIGGLEAQLSELRCEMEAQNQEYKMLL
DIKTRLEQEIATYRSLLEGQDAKMAGIAIREAYSFSL*

Variant Samples