RGD:41407981 Rat Genome Database

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Variant: RGD:41407981 -  Homo sapiens

RGD ID: 41407981
RS ID: rs2067229320
ClinVar ID: CV980285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM164  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 109,414,647
GRCh38 X 110,171,419
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017698.3:c.140-1G>C
NM_001353850.2:c.206-1G>C
NM_001353849.2:c.587-1G>C
NC_000023.10:g.109414647G>C
More... 		10/02/2020 splice acceptor variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TMEM164
Accession:XM_047442573
Location:INTRON

Gene Symbol:TMEM164
Accession:NM_001353849
Location:INTRON

Gene Symbol:TMEM164
Accession:NM_001353851
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442569
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442568
Location:INTRON

Gene Symbol:TMEM164
Accession:NM_017698
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_011531055
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442566
Location:INTRON

Gene Symbol:TMEM164
Accession:NM_032227
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_005262208
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_017029899
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442571
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442565
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_017029894
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442570
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_047442572
Location:INTRON

Gene Symbol:TMEM164
Accession:NM_001410717
Location:INTRON

Gene Symbol:TMEM164
Accession:NM_001353850
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_005262205
Location:INTRON

Gene Symbol:TMEM164
Accession:XM_017029897
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001280790 CLINVAR
dbSNP (RS) rs2067229320 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TMEM164 CLINVAR