RGD:151761522 Rat Genome Database

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Variant: RGD:151761522 -  Homo sapiens

RGD ID: 151761522
RS ID: rs146142399
ClinVar ID: CV1497465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 39,742,663
GRCh38 17 41,586,411
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000526.5:c.424G>A
NG_008624.1:g.5485G>A
NC_000017.11:g.41586411C>T
NC_000017.10:g.39742663C>T
More... 		09/15/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANANLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001987327 CLINVAR
dbSNP (RS) rs146142399 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR