rs764254189 Rat Genome Database

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Variant: rs764254189 -  Homo sapiens

RGD ID: 13484609
RS ID: rs764254189
ClinVar ID: CV442017
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AFG3L2  LOC107985154  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 18 12,340,229
GRCh38 18 12,340,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006796.2:c.1951A>C
LRG_666t1:c.1951A>C
NG_023361.1:g.42047A>C
NP_006787.2:p.Arg651=
More... 		03/08/2017 synonymous variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:AFG3L2
Accession:NM_006796
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 651
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAHRCLRLWGRGGCWPRGLQQLLVPGGVGPGEQPCLRTLYRFVTTQARASRNSLLTDIIAAYQRFCSRPPKGFEKYFPNG
KNGKKASEPKEVMGEKKESKPAATTRSSGGGGGGGGKRGGKKDDSHWWSRFQKGDIPWDDKDFRMFFLWTALFWGGVMFY
LLLKRSGREITWKDFVNNYLSKGVVDRLEVVNKRFVRVTFTPGKTPVDGQYVWFNIGSVDTFERNLETLQQELGIEGENR
VPVVYIAESDGSFLLSMLPTVLIIAFLLYTIRRGPAGIGRTGRGMGGLFSVGETTAKVLKDEIDVKFKDVAGCEEAKLEI
MEFVNFLKNPKQYQDLGAKIPKGAILTGPPGTGKTLLAKATAGEANVPFITVSGSEFLEMFVGVGPARVRDLFALARKNA
PCILFIDEIDAVGRKRGRGNFGGQSEQENTLNQLLVEMDGFNTTTNVVILAGTNRPDILDPALLRPGRFDRQIFIGPPDI
KGRASIFKVHLRPLKLDSTLEKDKLARKLASLTPGFSGADVANVCNEAALIAARHLSDSINQKHFEQAIERVIGGLEKKT
QVLQPEEKKTVAYHEAGHAVAGWYLEHADPLLKVSIIPRGKGLGYAQYLPKEQYLYTKEQLLDRMCMTLGGRVSEEIFFG
RITTGAQDDLRKVTQSAYAQIVQFGMNEKVGQISFDLPRQGDMVLEKPYSEATARLIDDEVRILINDAYKRTVALLTEKK
ADVEKVALLLLEKEVLDKNDMVELLGPRPFAEKSTYEEFVEGTGSLDEDTSLPEGLKDWNKEREKEKEEPPGEKVAN*

Gene Symbol:AFG3L2
Accession:XM_011525601
Location:INTRON

Gene Symbol:LOC107985154
Accession:XR_002958227
Location:INTRON;NON-CODING

Gene Symbol:LOC107985154
Accession:XR_001753363
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000518512 CLINVAR
dbSNP (RS) rs764254189 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene AFG3L2 CLINVAR
OMIM 604581 CLINVAR