RGD:8622221 Rat Genome Database

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Variant: RGD:8622221 -  Homo sapiens

RGD ID: 8622221
RS ID: rs60993843
ClinVar ID: CV77239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT14  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 39,742,728
GRCh38 17 41,586,476
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.5420A>C
NC_000017.11:g.41586476T>G
NC_000017.10:g.39742728T>G
NP_000517.3:p.Gln120Pro
More...
missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT14
Accession:NM_000526
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTCSRQFTSSSSMKGSCGIGGGIGGGSSRISSVLAGGSCRAPSTYGGGLSVSSSRFSSGGACGLGGGYGGGFSSSSSSF
GSGFGGGYGGGLGAGLGGGFGGGFAGGDGLLVGSEKVTMPNLNDRLASYLDKVRALEEANADLEVKIRDWYQRQRPAEIK
DYSPYFKTIEDLRNKILTATVDNANVLLQIDNARLAADDFRTKYETELNLRMSVEADINGLRRVLDELTLARADLEMQIE
SLKEELAYLKKNHEEEMNALRGQVGGDVNVEMDAAPGVDLSRILNEMRDQYEKMAEKNRKDAEEWFFTKTEELNREVATN
SELVQSGKSEISELRRTMQNLEIELQSQLSMKASLENSLEETKGRYCMQLAQIQEMIGSVEEQLAQLRCEMEQQNQEYKI
LLDVKTRLEQEIATYRRLLEGEDAHLSSSQFSSGSQSSRDVTSSSRQIRTKVMDVHDGKVVSTHEQVLRTKN*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000056710 CLINVAR
dbSNP (RS) rs60993843 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KRT14 CLINVAR
OMIM 148066 CLINVAR