RGD:156081349 Rat Genome Database

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Variant: RGD:156081349 -  Homo sapiens

RGD ID: 156081349
ClinVar ID: CV2249054
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMLR1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 131,156,044
GRCh38 6 130,834,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195597.2:c.273A>T
NC_000006.12:g.130834904A>T
NC_000006.11:g.131156044A>T
NR_015397.1:n.503A>T
More... 		12/03/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SMLR1
Accession:NM_001195597
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 91
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSKGRSPRRKQVQTQRKAALVLSVTPMVPVGSVWLAMSSVLSAFMRELPGWFLFFGVFLPVTLLLLLLIAYFRIKLIEV
NEELSQNCDRHHNPKDGSSLYQRMKWT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004116332 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SMLR1 CLINVAR