RGD:8622249 Rat Genome Database

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Variant: RGD:8622249 -  Homo sapiens

RGD ID: 8622249
RS ID: rs61765950
ClinVar ID: CV77267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 39,741,307
GRCh38 17 41,585,055
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008624.1:g.6841T>G
NC_000017.11:g.41585055A>C
NC_000017.10:g.39741307A>C
NM_000526.4:c.528T>G
More... 		missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMQNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKMLTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000056742 CLINVAR
dbSNP (RS) rs61765950 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR