RGD:156397786 Rat Genome Database

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Variant: RGD:156397786 -  Homo sapiens

RGD ID: 156397786
ClinVar ID: CV1985383
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM38B  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 108,536,174
GRCh38 9 105,773,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018112.3:c.689C>G
NG_032971.1:g.84369C>G
NC_000009.12:g.105773893C>G
NC_000009.11:g.108536174C>G
More... 		07/18/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TMEM38B
Accession:NM_018112
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPGAAALAWKNPISSWFTAMLHCFGGGILSCLLLAEPPLKFLANH
TNILLASSIWYITFFCPHDLVSQGYSYLPVQLLASGMKEVTRTWKIVGGVTHANSYYKNGWIVMIAIGWARGAGGTIITN
FERLVKGDWKPEGDEWLKMSYPAKVTLLGSVIFTFQHTQHLAISKHNLMFLYTIFIVATKITMMTTQTSSMTFAPFEDTL
SWMLFGWQQPFSSCEKKSEAKSPSNGVGSLASKPVDVASDNVKKKHTKKNE*

Gene Symbol:TMEM38B
Accession:XM_005252075
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLHCFGGGILSCLLLAEPPLKFLANHTNILLASSIWYITFFCPHDLVSQGYSYLPVQLLASGMKEVTRTWKIVGGVTHAN
SYYKNGWIVMIAIGWARGAGGTIITNFERLVKGDWKPEGDEWLKMSYPAKVTLLGSVIFTFQHTQHLAISKHNLMFLYTI
FIVATKITMMTTQTSSMTFAPFEDTLSWMLFGWQQPFSSCEKKSEAKSPSNGVGSLASKPVDVASDNVKKKHTKKNE*

Gene Symbol:TMEM38B
Accession:XM_011518832
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPWDELALAFSRTSMFPFFDIAHYLVSVMAVKRQPGAAALAWKNPISSWFTAMLHCFGGGILSCLLLAEPPLKFLANH
TNILLASSICPAKVTLLGSVIFTFQHTQHLAISKHNLMFLYTIFIVATKITMMTTQTSSMTFAPFEDTLSWMLFGWQQPF
SSCEKKSEAKSPSNGVGSLASKPVDVASDNVKKKHTKKNE*

Gene Symbol:TMEM38B
Accession:XM_011518831
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002635675 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TMEM38B CLINVAR
OMIM 611236 CLINVAR