RGD:8622451 Rat Genome Database

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Variant: RGD:8622451 -  Homo sapiens

RGD ID: 8622451
RS ID: rs267607469
ClinVar ID: CV77470
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRT6A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 52,882,142
GRCh38 12 52,488,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008298.1:g.10040A>G
NC_000012.12:g.52488358T>C
NC_000012.11:g.52882142T>C
NP_005545.1:p.Tyr465Cys
More...
missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KRT6A
Accession:NM_005554
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 465
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASTSTTIRSHSSSRRGFSANSARLPGVSRSGFSSVSVSRSRGSGGLGGACGGAGFGSRSLYGLGGSKRISIGGGSCAIS
GGYGSRAGGSYGFGGAGSGFGFGGGAGIGFGLGGGAGLAGGFGGPGFPVCPPGGIQEVTVNQSLLTPLNLQIDPTIQRVR
AEEREQIKTLNNKFASFIDKVRFLEQQNKVLETKWTLLQEQGTKTVRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELR
GMQDLVEDFKNKYEDEINKRTAAENEFVTLKKDVDAAYMNKVELQAKADTLTDEINFLRALYDAELSQMQTHISDTSVVL
SMDNNRNLDLDSIIAEVKAQYEEIAQRSRAEAESWYQTKYEELQVTAGRHGDDLRNTKQEIAEINRMIQRLRSEIDHVKK
QCANLQAAIADAEQRGEMALKDAKNKLEGLEDALQKAKQDLARLLKEYQELMNVKLALDVEIATCRKLLEGEECRLNGEG
VGQVNISVVQSTVSSGYGGASGVGSGLGLGGGSSYSYGSGLGVGGGFSSSSGRAIGGGLSSVGGGSSTIKYTTTSSSSRK
SYKH*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000056993 CLINVAR
dbSNP (RS) rs267607469 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KRT6A CLINVAR
OMIM 148041 CLINVAR