RGD:156282550 Rat Genome Database

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Variant: RGD:156282550 -  Homo sapiens

RGD ID: 156282550
ClinVar ID: CV2288832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM147  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 36,037,921
GRCh38 19 35,547,019
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242598.2:c.208-100A>G
NM_001242597.2:c.272A>G
NM_006326.1:c.419A>G
NM_032635.4:c.419A>G
More... 		07/06/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM147
Accession:NM_032635
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLFVQLCKMLFLATFFPTWEGGIYDFIGEFMKASVDVAD
LIGLNLVMSRNAGKGEYKIMVAALGWATAELIMSRCIPLWVGARGIEFDWKYIQMSIDSSISLVHYIVASAQVWMITRYD
LYHTFRPAVLLLMFLSVYKAFVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVAVVNVHS*

Gene Symbol:TMEM147
Accession:NM_001242597
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFLATFFPTWEGGIYDFIGEFMKASVDVADLIGLNLVMSRNAGKGEYKIMVAALGWATAELIMSRCIPLWVGARGIEFD
WKYIQMSIDSSISLVHYIVASAQVWMITRYDLYHTFRPAVLLLMFLSVYKAFVMETFVHLCSLGSWAALLARAVVTGLLA
LSTLALYVAVVNVHS*

Gene Symbol:TMEM147
Accession:NM_001242598
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002878294 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TMEM147 CLINVAR
OMIM 613585 CLINVAR