RGD:150429080 Rat Genome Database

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Variant: RGD:150429080 -  Homo sapiens

RGD ID: 150429080
RS ID: rs1814683120
ClinVar ID: CV1187319
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNK9  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 140,631,061
GRCh38 8 139,618,818
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1042t1:c.565G>A
NM_001282534.2:c.565G>A
LRG_1042:g.89239G>A
NG_012842.3:g.89239G>A
More... 		08/21/2020 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNK9
Accession:NM_001282534
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRQNVRTLSLIVCTFTYLLVGAAVFDALESDHEMREEEKLKAEEIRIKGKYNISSEDYRQLELVILQSEPHRAGVQWKF
AGSFYFAITVITTIGYGHAAPGTDAGKAFCMFYAVLGIPLTLVMFQSLGERMNTFVRYLLKRIKKCCGMRNTDVSMENMV
TVGFFSCMGTLCIGAAAFSQCEEWSFFHTYYYCFITLTTIGFGDYVALQTKGALQKKPLYVAFSFMYILVGLTVIGAFLN
LVVLRFLTMNSEDERRDAEERASLAGNRNSMVIHIPEEPRPSRPRYKADVPDLQSVCSCTCYRSQDYGGRSVAPQNSFSA
KLAPHYFHSISYKIEEISPSTLKNSLFPSPISSISPGLHSFTDHQRLMKRRKSV*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001563121 CLINVAR
dbSNP (RS) rs1814683120 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KCNK9 CLINVAR
OMIM 605874 CLINVAR