RGD:401828539 Rat Genome Database

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Variant: RGD:401828539 -  Homo sapiens

RGD ID: 401828539
ClinVar ID: CV2743473
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127891312  TMEM147  TMEM147-AS1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 36,036,849
GRCh38 19 35,545,947
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001242597.2:c.-11A>C
NM_001242598.2:c.137A>C
NM_006326.1:c.137A>C
NM_032635.4:c.137A>C
More... 		03/23/2023 5 prime utr variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:TMEM147
Accession:NM_001242597
Location:5UTRS;EXON

Gene Symbol:TMEM147
Accession:NM_032635
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLFVPLCKMLFLATFFPTWEGGIYDFIGEFMKASVDVAD
LIGLNLVMSRNAGKGEYKIMVAALGWATAELIMSRCIPLWVGARGIEFDWKYIQMSIDSNISLVHYIVASAQVWMITRYD
LYHTFRPAVLLLMFLSVYKAFVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVAVVNVHS*

Gene Symbol:TMEM147
Accession:NM_001242598
Location:EXON
Amino Acid Prediction: Q to P (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLFHFGNCFALAYFPYFITYKCSGLSEYNAFWKCVQAGVTYLFVPLCKMLFLATFFPTWEGGIYDFIGVHYIVASAQVW
MITRYDLYHTFRPAVLLLMFLSVYKAFVMETFVHLCSLGSWAALLARAVVTGLLALSTLALYVAVVNVHS*

Gene Symbol:TMEM147-AS1
Accession:NR_038396
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003326314 CLINVAR
MedGen C5774232 CLINVAR
NCBI Gene TMEM147 CLINVAR
  TMEM147-AS1 CLINVAR
OMIM 613585 CLINVAR
  620075 CLINVAR