RGD:21405385 Rat Genome Database

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Variant: RGD:21405385 -  Homo sapiens

RGD ID: 21405385
RS ID: rs61745022
ClinVar ID: CV800206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LINC00630  RAB40AL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 102,192,681
GRCh38 X 102,937,753
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031834.1:c.435C>T
NG_017150.1:g.5482C>T
NC_000023.11:g.102937753C>T
NC_000023.10:g.102192681C>T
More... 		01/11/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RAB40AL
Accession:NM_001031834
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAPGSPDQAYDFLLKFLLVGDRDVGKSEILESLQDGTAESPYSHLGGIDYKTTTILLDGQRVKLKLWDTSGQGRFCTIF
RSYSRGAQGVILVYDIANRWSFEGMDRWIKKIEEHAPGVPKILVGNRLHLAFKRQVPREQAQAYAERLGVTFFEVSPLCN
FNIIESFTELARIVLLRHRLNWLGRPSKVLSLQDLCCRTIVSCTPVHLVDKLPLPIALRSHLKSFSMAKGLNARMMRGLS
YSLTTSSTHKRSSLCKVKIVCPPQSPPKNCTRNSCKIS*

Gene Symbol:LINC00630
Accession:NR_146588
Location:INTRON;NON-CODING

Gene Symbol:LINC00630
Accession:NR_038988
Location:INTRON;NON-CODING

Gene Symbol:LINC00630
Accession:NR_146592
Location:INTRON;NON-CODING

Gene Symbol:LINC00630
Accession:NR_146593
Location:INTRON;NON-CODING

Gene Symbol:LINC00630
Accession:NR_146589
Location:INTRON;NON-CODING

Gene Symbol:LINC00630
Accession:NR_146591
Location:INTRON;NON-CODING

Gene Symbol:LINC00630
Accession:NR_146590
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001811565 CLINVAR
dbSNP (RS) rs61745022 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LINC00630 CLINVAR
  RAB40AL CLINVAR
OMIM 300405 CLINVAR