RGD:8632869 Rat Genome Database

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Variant: RGD:8632869 -  Homo sapiens

RGD ID: 8632869
ClinVar ID: CV88084
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNK9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 140,630,676
GRCh38 8 139,618,433
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282534.1:c.950C>T
NG_012842.2:g.89624C>T
NC_000008.11:g.139618433G>A
NC_000008.10:g.140630676G>A
More... 		missense|non-coding transcript variant|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:KCNK9
Accession:NM_001282534
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRQNVRTLSLIVCTFTYLLVGAAVFDALESDHEMREEEKLKAEEIRIKGKYNISSEDYRQLELVILQSEPHRAGVQWKF
AGSFYFAITVITTIGYGHAAPGTDAGKAFCMFYAVLGIPLTLVMFQSLGERMNTFVRYLLKRIKKCCGMRNTDVSMENMV
TVGFFSCMGTLCIGAAAFSQCEEWSFFHAYYYCFITLTTIGFGDYVALQTKGALQKKPLYVAFSFMYILVGLTVIGAFLN
LVVLRFLTMNSEDERRDAEERASLAGNRNSMVIHIPEEPRPSRPRYKADVPDLQSVCSCTCYRSQDYGGRSVAPQNFFSA
KLAPHYFHSISYKIEEISPSTLKNSLFPSPISSISPGLHSFTDHQRLMKRRKSV*

Gene Symbol:KCNK9
Accession:NR_104210
Location:EXON;NON-CODING

Variant Samples